Canonical Allele Identifier: CA375312161

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394344A>G (hg19) ; chr9:g.131518957A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518957A>G , CM000671.2:g.131518957A>G	GRCh38
NC_000009.11:g.134394344A>G , CM000671.1:g.134394344A>G	GRCh37
NC_000009.10:g.133384165A>G	NCBI36
NG_008896.1:g.21056A>G
NG_008896.2:g.21056A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1324A>G	ENSP00000343034.7:p.Ser442Gly
ENST00000404875.7:n.2026A>G
ENST00000423007.6:c.1543A>G	ENSP00000404119.2:p.Ser515Gly
ENST00000677295.2:c.*1830A>G	ENSP00000504346.2:n.*1830A>G
ENST00000678264.2:c.*1669A>G	ENSP00000503157.2:n.*1669A>G
ENST00000682070.1:n.1951A>G
ENST00000682539.1:c.424A>G
ENST00000682813.1:n.1890A>G
ENST00000683392.1:n.4233A>G
ENST00000683712.1:n.1891A>G
ENST00000683900.1:n.3386A>G
ENST00000684062.1:n.2152A>G
ENST00000684579.1:n.3332A>G
ENST00000684679.1:n.713A>G
ENST00000341012.12:c.1324A>G	ENSP00000343034.7:p.Ser442Gly
ENST00000372220.5:c.355A>G	ENSP00000361294.5:p.Ser119Gly
ENST00000372228.9:c.1552A>G	ENSP00000361302.3:p.Ser518Gly
ENST00000402686.8:c.1486A>G MANE Select	ENSP00000385797.4:p.Ser496Gly
ENST00000676640.1:c.1486A>G	ENSP00000503281.1:p.Ser496Gly
ENST00000676803.1:c.661A>G	ENSP00000503093.1:p.Ser221Gly
ENST00000676835.1:c.*701A>G	ENSP00000502911.1:n.*701A>G
ENST00000677029.1:c.1030A>G	ENSP00000502936.1:p.Ser344Gly
ENST00000677099.1:c.*1196A>G	ENSP00000504553.1:n.*1196A>G
ENST00000677216.1:c.1135A>G	ENSP00000503772.1:p.Ser379Gly
ENST00000677221.1:n.511A>G
ENST00000677295.1:c.*863A>G	ENSP00000504346.1:n.*863A>G
ENST00000677444.1:c.1431A>G
ENST00000677586.1:n.967A>G
ENST00000677626.1:c.1135A>G	ENSP00000503552.1:p.Ser379Gly
ENST00000677677.1:n.1446A>G
ENST00000677853.1:c.*494A>G	ENSP00000503488.1:n.*494A>G
ENST00000678202.1:n.645A>G
ENST00000678264.1:c.*863A>G	ENSP00000503157.1:n.*863A>G
ENST00000678303.1:c.1396A>G	ENSP00000503696.1:p.Ser466Gly
ENST00000678366.1:c.*1735A>G	ENSP00000504353.1:n.*1735A>G
ENST00000678546.1:c.*1431A>G	ENSP00000503062.1:n.*1431A>G
ENST00000678548.1:c.*1558A>G	ENSP00000503934.1:n.*1558A>G
ENST00000678626.1:n.1322A>G
ENST00000678733.1:c.567A>G
ENST00000678739.1:c.*1812A>G	ENSP00000503806.1:n.*1812A>G
ENST00000678833.1:c.*933A>G	ENSP00000503893.1:n.*933A>G
ENST00000679023.1:c.1324A>G	ENSP00000503718.1:p.Ser442Gly
ENST00000679076.1:c.1105A>G
ENST00000679111.1:c.*242A>G	ENSP00000504257.1:n.*242A>G
ENST00000679189.1:c.1135A>G	ENSP00000503356.1:p.Ser379Gly
ENST00000341012.11:c.1324A>G	ENSP00000343034.7:p.Ser442Gly
ENST00000372220.4:c.349A>G	ENSP00000361294.4:p.Ser117Gly
ENST00000372228.7:c.1552A>G	ENSP00000361302.3:p.Ser518Gly
ENST00000402686.7:c.1486A>G	ENSP00000385797.3:p.Ser496Gly
ENST00000404875.6:c.1135A>G	ENSP00000384531.2:p.Ser379Gly
ENST00000423007.5:c.1486A>G	ENSP00000404119.1:p.Ser496Gly
ENST00000467848.1:n.190A>G
ENST00000485278.5:n.2041A>G
NM_001077365.1:c.1486A>G	NP_001070833.1:p.Ser496Gly
NM_001077366.1:c.1324A>G	NP_001070834.1:p.Ser442Gly
NM_001136113.1:c.1486A>G	NP_001129585.1:p.Ser496Gly
NM_001136114.1:c.1135A>G	NP_001129586.1:p.Ser379Gly
NM_007171.3:c.1552A>G	NP_009102.3:p.Ser518Gly
XM_005272156.1:c.1552A>G	XP_005272213.1:p.Ser518Gly
XM_005272158.1:c.1390A>G	XP_005272215.1:p.Ser464Gly
XM_005272159.1:c.1201A>G	XP_005272216.1:p.Ser401Gly
XM_005272162.1:c.355A>G	XP_005272219.1:p.Ser119Gly
XM_006716932.1:c.1201A>G	XP_006716995.1:p.Ser401Gly
XM_011518140.1:c.1405A>G	XP_011516442.1:p.Ser469Gly
XM_011518141.1:c.1339A>G	XP_011516443.1:p.Ser447Gly
XM_011518142.1:c.1243A>G	XP_011516444.1:p.Ser415Gly
XM_011518143.1:c.1237A>G	XP_011516445.1:p.Ser413Gly
XM_011518145.1:c.1096A>G	XP_011516447.1:p.Ser366Gly
XM_011518147.1:c.424A>G	XP_011516449.1:p.Ser142Gly
XR_929703.1:n.1728A>G
NM_001353193.1:c.1552A>G	NP_001340122.1:p.Ser518Gly
NM_001353194.1:c.1324A>G	NP_001340123.1:p.Ser442Gly
NM_001353195.1:c.1135A>G	NP_001340124.1:p.Ser379Gly
NM_001353196.1:c.1396A>G	NP_001340125.1:p.Ser466Gly
NM_001353197.1:c.1390A>G	NP_001340126.1:p.Ser464Gly
NM_001353198.1:c.1390A>G	NP_001340127.1:p.Ser464Gly
NM_001353199.1:c.1201A>G	NP_001340128.1:p.Ser401Gly
NM_001353200.1:c.1030A>G	NP_001340129.1:p.Ser344Gly
NR_148391.1:n.1536A>G
NR_148392.1:n.1754A>G
NR_148393.1:n.1675A>G
NR_148394.1:n.1429A>G
NR_148395.1:n.1827A>G
NR_148396.1:n.1461A>G
NR_148397.1:n.1586A>G
NR_148398.1:n.1541A>G
NR_148399.1:n.2067A>G
NR_148400.1:n.1666A>G
XM_005272162.3:c.355A>G	XP_005272219.1:p.Ser119Gly
XM_006716932.2:c.1201A>G	XP_006716995.1:p.Ser401Gly
XM_011518140.2:c.1405A>G	XP_011516442.1:p.Ser469Gly
XM_011518141.2:c.1339A>G	XP_011516443.1:p.Ser447Gly
XM_011518142.2:c.1243A>G	XP_011516444.1:p.Ser415Gly
XM_011518143.2:c.1237A>G	XP_011516445.1:p.Ser413Gly
XM_011518145.2:c.1096A>G	XP_011516447.1:p.Ser366Gly
XM_017014205.2:c.355A>G	XP_016869694.1:p.Ser119Gly
XM_024447380.1:c.355A>G	XP_024303148.1:p.Ser119Gly
XM_024447381.1:c.661A>G	XP_024303149.1:p.Ser221Gly
XM_024447382.1:c.355A>G	XP_024303150.1:p.Ser119Gly
XR_001746160.2:n.1656A>G
XR_001746162.2:n.1861A>G
XR_001746164.1:n.1578A>G
XR_001746166.2:n.1873A>G
NM_001077365.2:c.1486A>G MANE Select	NP_001070833.1:p.Ser496Gly
NM_001077366.2:c.1324A>G	NP_001070834.1:p.Ser442Gly
NM_001136113.2:c.1486A>G	NP_001129585.1:p.Ser496Gly
NM_001136114.2:c.1135A>G	NP_001129586.1:p.Ser379Gly
NM_001353193.2:c.1552A>G	NP_001340122.2:p.Ser518Gly
NM_001353194.2:c.1324A>G	NP_001340123.1:p.Ser442Gly
NM_001353195.2:c.1135A>G	NP_001340124.1:p.Ser379Gly
NM_001353196.2:c.1396A>G	NP_001340125.1:p.Ser466Gly
NM_001353197.2:c.1390A>G	NP_001340126.2:p.Ser464Gly
NM_001353198.2:c.1390A>G	NP_001340127.2:p.Ser464Gly
NM_001353199.2:c.1201A>G	NP_001340128.2:p.Ser401Gly
NM_001353200.2:c.1030A>G	NP_001340129.1:p.Ser344Gly
NM_001374689.1:c.1474A>G	NP_001361618.1:p.Ser492Gly
NM_001374690.1:c.1365+420A>G	NP_001361619.1:n.1365+420A>G
NM_001374691.1:c.1135A>G	NP_001361620.1:p.Ser379Gly
NM_001374692.1:c.1135A>G	NP_001361621.1:p.Ser379Gly
NM_001374693.1:c.1135A>G	NP_001361622.1:p.Ser379Gly
NM_001374695.1:c.1096A>G	NP_001361624.1:p.Ser366Gly
NM_007171.4:c.1552A>G	NP_009102.4:p.Ser518Gly
NR_148391.2:n.1520A>G
NR_148392.2:n.1738A>G
NR_148393.2:n.1659A>G
NR_148394.2:n.1413A>G
NR_148395.2:n.1811A>G
NR_148396.2:n.1445A>G
NR_148397.2:n.1570A>G
NR_148398.2:n.1525A>G
NR_148399.2:n.2051A>G
NR_148400.2:n.1650A>G