Canonical Allele Identifier: CA2692221276

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518967-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518967C>A , CM000671.2:g.131518967C>A	GRCh38
NC_000009.11:g.134394354C>A , CM000671.1:g.134394354C>A	GRCh37
NC_000009.10:g.133384175C>A	NCBI36
NG_008896.1:g.21066C>A
NG_008896.2:g.21066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1324+10C>A	ENSP00000343034.7:n.1324+10C>A
ENST00000404875.7:n.2026+10C>A
ENST00000423007.6:c.1543+10C>A	ENSP00000404119.2:n.1543+10C>A
ENST00000677295.2:c.*1830+10C>A	ENSP00000504346.2:n.*1830+10C>A
ENST00000678264.2:c.*1669+10C>A	ENSP00000503157.2:n.*1669+10C>A
ENST00000682070.1:n.1951+10C>A
ENST00000682813.1:n.1890+10C>A
ENST00000683392.1:n.4233+10C>A
ENST00000683712.1:n.1891+10C>A
ENST00000683900.1:n.3386+10C>A
ENST00000684062.1:n.2152+10C>A
ENST00000684579.1:n.3332+10C>A
ENST00000684679.1:n.713+10C>A
ENST00000341012.12:c.1324+10C>A	ENSP00000343034.7:n.1324+10C>A
ENST00000372220.5:c.355+10C>A	ENSP00000361294.5:n.355+10C>A
ENST00000372228.9:c.1552+10C>A	ENSP00000361302.3:n.1552+10C>A
ENST00000402686.8:c.1486+10C>A MANE Select	ENSP00000385797.4:n.1486+10C>A
ENST00000676640.1:c.1486+10C>A	ENSP00000503281.1:n.1486+10C>A
ENST00000676803.1:c.661+10C>A	ENSP00000503093.1:n.661+10C>A
ENST00000676835.1:c.*701+10C>A	ENSP00000502911.1:n.*701+10C>A
ENST00000677029.1:c.1030+10C>A	ENSP00000502936.1:n.1030+10C>A
ENST00000677099.1:c.*1196+10C>A	ENSP00000504553.1:n.*1196+10C>A
ENST00000677216.1:c.1135+10C>A	ENSP00000503772.1:n.1135+10C>A
ENST00000677221.1:n.511+10C>A
ENST00000677295.1:c.*863+10C>A	ENSP00000504346.1:n.*863+10C>A
ENST00000677444.1:c.1431+10C>A
ENST00000677586.1:n.967+10C>A
ENST00000677626.1:c.1135+10C>A	ENSP00000503552.1:n.1135+10C>A
ENST00000677677.1:n.1446+10C>A
ENST00000677853.1:c.*494+10C>A	ENSP00000503488.1:n.*494+10C>A
ENST00000678202.1:n.645+10C>A
ENST00000678264.1:c.*863+10C>A	ENSP00000503157.1:n.*863+10C>A
ENST00000678303.1:c.1396+10C>A	ENSP00000503696.1:n.1396+10C>A
ENST00000678366.1:c.*1735+10C>A	ENSP00000504353.1:n.*1735+10C>A
ENST00000678546.1:c.*1431+10C>A	ENSP00000503062.1:n.*1431+10C>A
ENST00000678548.1:c.*1558+10C>A	ENSP00000503934.1:n.*1558+10C>A
ENST00000678626.1:n.1322+10C>A
ENST00000678733.1:c.567+10C>A
ENST00000678739.1:c.*1812+10C>A	ENSP00000503806.1:n.*1812+10C>A
ENST00000678833.1:c.*933+10C>A	ENSP00000503893.1:n.*933+10C>A
ENST00000679023.1:c.1324+10C>A	ENSP00000503718.1:n.1324+10C>A
ENST00000679076.1:c.1105+10C>A
ENST00000679111.1:c.*242+10C>A	ENSP00000504257.1:n.*242+10C>A
ENST00000679189.1:c.1135+10C>A	ENSP00000503356.1:n.1135+10C>A
ENST00000341012.11:c.1324+10C>A	ENSP00000343034.7:n.1324+10C>A
ENST00000372220.4:c.349+10C>A	ENSP00000361294.4:n.349+10C>A
ENST00000372228.7:c.1552+10C>A	ENSP00000361302.3:n.1552+10C>A
ENST00000402686.7:c.1486+10C>A	ENSP00000385797.3:n.1486+10C>A
ENST00000404875.6:c.1135+10C>A	ENSP00000384531.2:n.1135+10C>A
ENST00000423007.5:c.1486+10C>A	ENSP00000404119.1:n.1486+10C>A
ENST00000467848.1:n.190+10C>A
ENST00000485278.5:n.2041+10C>A
NM_001077365.1:c.1486+10C>A	NP_001070833.1:n.1486+10C>A
NM_001077366.1:c.1324+10C>A	NP_001070834.1:n.1324+10C>A
NM_001136113.1:c.1486+10C>A	NP_001129585.1:n.1486+10C>A
NM_001136114.1:c.1135+10C>A	NP_001129586.1:n.1135+10C>A
NM_007171.3:c.1552+10C>A	NP_009102.3:n.1552+10C>A
XM_005272156.1:c.1552+10C>A	XP_005272213.1:n.1552+10C>A
XM_005272158.1:c.1390+10C>A	XP_005272215.1:n.1390+10C>A
XM_005272159.1:c.1201+10C>A	XP_005272216.1:n.1201+10C>A
XM_005272162.1:c.355+10C>A	XP_005272219.1:n.355+10C>A
XM_006716932.1:c.1201+10C>A	XP_006716995.1:n.1201+10C>A
XM_011518140.1:c.1405+10C>A	XP_011516442.1:n.1405+10C>A
XM_011518141.1:c.1339+10C>A	XP_011516443.1:n.1339+10C>A
XM_011518142.1:c.1243+10C>A	XP_011516444.1:n.1243+10C>A
XM_011518143.1:c.1237+10C>A	XP_011516445.1:n.1237+10C>A
XM_011518145.1:c.1096+10C>A	XP_011516447.1:n.1096+10C>A
XM_011518147.1:c.424+10C>A	XP_011516449.1:n.424+10C>A
XR_929703.1:n.1728+10C>A
NM_001353193.1:c.1552+10C>A	NP_001340122.1:n.1552+10C>A
NM_001353194.1:c.1324+10C>A	NP_001340123.1:n.1324+10C>A
NM_001353195.1:c.1135+10C>A	NP_001340124.1:n.1135+10C>A
NM_001353196.1:c.1396+10C>A	NP_001340125.1:n.1396+10C>A
NM_001353197.1:c.1390+10C>A	NP_001340126.1:n.1390+10C>A
NM_001353198.1:c.1390+10C>A	NP_001340127.1:n.1390+10C>A
NM_001353199.1:c.1201+10C>A	NP_001340128.1:n.1201+10C>A
NM_001353200.1:c.1030+10C>A	NP_001340129.1:n.1030+10C>A
NR_148391.1:n.1536+10C>A
NR_148392.1:n.1754+10C>A
NR_148393.1:n.1675+10C>A
NR_148394.1:n.1429+10C>A
NR_148395.1:n.1827+10C>A
NR_148396.1:n.1461+10C>A
NR_148397.1:n.1586+10C>A
NR_148398.1:n.1541+10C>A
NR_148399.1:n.2067+10C>A
NR_148400.1:n.1666+10C>A
XM_005272162.3:c.355+10C>A	XP_005272219.1:n.355+10C>A
XM_006716932.2:c.1201+10C>A	XP_006716995.1:n.1201+10C>A
XM_011518140.2:c.1405+10C>A	XP_011516442.1:n.1405+10C>A
XM_011518141.2:c.1339+10C>A	XP_011516443.1:n.1339+10C>A
XM_011518142.2:c.1243+10C>A	XP_011516444.1:n.1243+10C>A
XM_011518143.2:c.1237+10C>A	XP_011516445.1:n.1237+10C>A
XM_011518145.2:c.1096+10C>A	XP_011516447.1:n.1096+10C>A
XM_017014205.2:c.355+10C>A	XP_016869694.1:n.355+10C>A
XM_024447380.1:c.355+10C>A	XP_024303148.1:n.355+10C>A
XM_024447381.1:c.661+10C>A	XP_024303149.1:n.661+10C>A
XM_024447382.1:c.355+10C>A	XP_024303150.1:n.355+10C>A
XR_001746160.2:n.1656+10C>A
XR_001746162.2:n.1861+10C>A
XR_001746164.1:n.1578+10C>A
XR_001746166.2:n.1873+10C>A
NM_001077365.2:c.1486+10C>A MANE Select	NP_001070833.1:n.1486+10C>A
NM_001077366.2:c.1324+10C>A	NP_001070834.1:n.1324+10C>A
NM_001136113.2:c.1486+10C>A	NP_001129585.1:n.1486+10C>A
NM_001136114.2:c.1135+10C>A	NP_001129586.1:n.1135+10C>A
NM_001353193.2:c.1552+10C>A	NP_001340122.2:n.1552+10C>A
NM_001353194.2:c.1324+10C>A	NP_001340123.1:n.1324+10C>A
NM_001353195.2:c.1135+10C>A	NP_001340124.1:n.1135+10C>A
NM_001353196.2:c.1396+10C>A	NP_001340125.1:n.1396+10C>A
NM_001353197.2:c.1390+10C>A	NP_001340126.2:n.1390+10C>A
NM_001353198.2:c.1390+10C>A	NP_001340127.2:n.1390+10C>A
NM_001353199.2:c.1201+10C>A	NP_001340128.2:n.1201+10C>A
NM_001353200.2:c.1030+10C>A	NP_001340129.1:n.1030+10C>A
NM_001374689.1:c.1474+10C>A	NP_001361618.1:n.1474+10C>A
NM_001374690.1:c.1365+430C>A	NP_001361619.1:n.1365+430C>A
NM_001374691.1:c.1135+10C>A	NP_001361620.1:n.1135+10C>A
NM_001374692.1:c.1135+10C>A	NP_001361621.1:n.1135+10C>A
NM_001374693.1:c.1135+10C>A	NP_001361622.1:n.1135+10C>A
NM_001374695.1:c.1096+10C>A	NP_001361624.1:n.1096+10C>A
NM_007171.4:c.1552+10C>A	NP_009102.4:n.1552+10C>A
NR_148391.2:n.1520+10C>A
NR_148392.2:n.1738+10C>A
NR_148393.2:n.1659+10C>A
NR_148394.2:n.1413+10C>A
NR_148395.2:n.1811+10C>A
NR_148396.2:n.1445+10C>A
NR_148397.2:n.1570+10C>A
NR_148398.2:n.1525+10C>A
NR_148399.2:n.2051+10C>A
NR_148400.2:n.1650+10C>A