Canonical Allele Identifier: CA375310074

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390874A>C (hg19) ; chr9:g.131515487A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515487A>C , CM000671.2:g.131515487A>C	GRCh38
NC_000009.11:g.134390874A>C , CM000671.1:g.134390874A>C	GRCh37
NC_000009.10:g.133380695A>C	NCBI36
NG_008896.1:g.17586A>C
NG_008896.2:g.17586A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1075A>C	ENSP00000343034.7:p.Asn359His
ENST00000404875.7:n.1777A>C
ENST00000423007.6:c.1294A>C	ENSP00000404119.2:p.Asn432His
ENST00000677295.2:c.*1581A>C	ENSP00000504346.2:n.*1581A>C
ENST00000678264.2:c.*1420A>C	ENSP00000503157.2:n.*1420A>C
ENST00000682070.1:n.1702A>C
ENST00000682539.1:c.62A>C
ENST00000682813.1:n.1502A>C
ENST00000683392.1:n.3984A>C
ENST00000683712.1:n.1642A>C
ENST00000683900.1:n.3137A>C
ENST00000684062.1:n.1903A>C
ENST00000684579.1:n.3083A>C
ENST00000341012.12:c.1075A>C	ENSP00000343034.7:p.Asn359His
ENST00000372220.5:c.106A>C	ENSP00000361294.5:p.Asn36His
ENST00000372228.9:c.1303A>C	ENSP00000361302.3:p.Asn435His
ENST00000402686.8:c.1237A>C MANE Select	ENSP00000385797.4:p.Asn413His
ENST00000676640.1:c.1237A>C	ENSP00000503281.1:p.Asn413His
ENST00000676803.1:c.412A>C	ENSP00000503093.1:p.Asn138His
ENST00000676835.1:c.*452A>C	ENSP00000502911.1:n.*452A>C
ENST00000677029.1:c.781A>C	ENSP00000502936.1:p.Asn261His
ENST00000677099.1:c.*947A>C	ENSP00000504553.1:n.*947A>C
ENST00000677216.1:c.886A>C	ENSP00000503772.1:p.Asn296His
ENST00000677295.1:c.*614A>C	ENSP00000504346.1:n.*614A>C
ENST00000677444.1:c.1043A>C
ENST00000677586.1:n.718A>C
ENST00000677626.1:c.886A>C	ENSP00000503552.1:p.Asn296His
ENST00000677677.1:n.1197A>C
ENST00000677853.1:c.*245A>C	ENSP00000503488.1:n.*245A>C
ENST00000677944.1:c.499A>C
ENST00000678264.1:c.*614A>C	ENSP00000503157.1:n.*614A>C
ENST00000678303.1:c.1147A>C	ENSP00000503696.1:p.Asn383His
ENST00000678366.1:c.*1486A>C	ENSP00000504353.1:n.*1486A>C
ENST00000678546.1:c.*1182A>C	ENSP00000503062.1:n.*1182A>C
ENST00000678548.1:c.*1309A>C	ENSP00000503934.1:n.*1309A>C
ENST00000678626.1:n.934A>C
ENST00000678733.1:c.318A>C
ENST00000678739.1:c.*1563A>C	ENSP00000503806.1:n.*1563A>C
ENST00000678795.1:n.324A>C
ENST00000678833.1:c.*684A>C	ENSP00000503893.1:n.*684A>C
ENST00000678942.1:c.417A>C	ENSP00000504690.1:n.417A>C
ENST00000679023.1:c.1075A>C	ENSP00000503718.1:p.Asn359His
ENST00000679076.1:c.856A>C
ENST00000679111.1:c.1237A>C	ENSP00000504257.1:p.Asn413His
ENST00000679189.1:c.886A>C	ENSP00000503356.1:p.Asn296His
ENST00000341012.11:c.1075A>C	ENSP00000343034.7:p.Asn359His
ENST00000372228.7:c.1303A>C	ENSP00000361302.3:p.Asn435His
ENST00000402686.7:c.1237A>C	ENSP00000385797.3:p.Asn413His
ENST00000404875.6:c.886A>C	ENSP00000384531.2:p.Asn296His
ENST00000423007.5:c.1237A>C	ENSP00000404119.1:p.Asn413His
ENST00000485278.5:n.1792A>C
NM_001077365.1:c.1237A>C	NP_001070833.1:p.Asn413His
NM_001077366.1:c.1075A>C	NP_001070834.1:p.Asn359His
NM_001136113.1:c.1237A>C	NP_001129585.1:p.Asn413His
NM_001136114.1:c.886A>C	NP_001129586.1:p.Asn296His
NM_007171.3:c.1303A>C	NP_009102.3:p.Asn435His
XM_005272156.1:c.1303A>C	XP_005272213.1:p.Asn435His
XM_005272158.1:c.1141A>C	XP_005272215.1:p.Asn381His
XM_005272159.1:c.952A>C	XP_005272216.1:p.Asn318His
XM_005272162.1:c.106A>C	XP_005272219.1:p.Asn36His
XM_006716932.1:c.952A>C	XP_006716995.1:p.Asn318His
XM_011518140.1:c.1156A>C	XP_011516442.1:p.Asn386His
XM_011518141.1:c.1090A>C	XP_011516443.1:p.Asn364His
XM_011518142.1:c.994A>C	XP_011516444.1:p.Asn332His
XM_011518143.1:c.988A>C	XP_011516445.1:p.Asn330His
XM_011518144.1:c.1303A>C	XP_011516446.1:p.Asn435His
XM_011518145.1:c.847A>C	XP_011516447.1:p.Asn283His
XM_011518146.1:c.988A>C	XP_011516448.1:p.Asn330His
XR_929703.1:n.1479A>C
NM_001353193.1:c.1303A>C	NP_001340122.1:p.Asn435His
NM_001353194.1:c.1075A>C	NP_001340123.1:p.Asn359His
NM_001353195.1:c.886A>C	NP_001340124.1:p.Asn296His
NM_001353196.1:c.1147A>C	NP_001340125.1:p.Asn383His
NM_001353197.1:c.1141A>C	NP_001340126.1:p.Asn381His
NM_001353198.1:c.1141A>C	NP_001340127.1:p.Asn381His
NM_001353199.1:c.952A>C	NP_001340128.1:p.Asn318His
NM_001353200.1:c.781A>C	NP_001340129.1:p.Asn261His
NR_148391.1:n.1287A>C
NR_148392.1:n.1505A>C
NR_148393.1:n.1287A>C
NR_148394.1:n.1180A>C
NR_148395.1:n.1439A>C
NR_148396.1:n.1073A>C
NR_148397.1:n.1337A>C
NR_148398.1:n.1292A>C
NR_148399.1:n.1679A>C
NR_148400.1:n.1278A>C
XM_005272162.3:c.106A>C	XP_005272219.1:p.Asn36His
XM_006716932.2:c.952A>C	XP_006716995.1:p.Asn318His
XM_011518140.2:c.1156A>C	XP_011516442.1:p.Asn386His
XM_011518141.2:c.1090A>C	XP_011516443.1:p.Asn364His
XM_011518142.2:c.994A>C	XP_011516444.1:p.Asn332His
XM_011518143.2:c.988A>C	XP_011516445.1:p.Asn330His
XM_011518145.2:c.847A>C	XP_011516447.1:p.Asn283His
XM_017014205.2:c.106A>C	XP_016869694.1:p.Asn36His
XM_024447380.1:c.106A>C	XP_024303148.1:p.Asn36His
XM_024447381.1:c.412A>C	XP_024303149.1:p.Asn138His
XM_024447382.1:c.106A>C	XP_024303150.1:p.Asn36His
XR_001746160.2:n.1407A>C
XR_001746162.2:n.1473A>C
XR_001746164.1:n.1190A>C
XR_001746166.2:n.1624A>C
NM_001077365.2:c.1237A>C MANE Select	NP_001070833.1:p.Asn413His
NM_001077366.2:c.1075A>C	NP_001070834.1:p.Asn359His
NM_001136113.2:c.1237A>C	NP_001129585.1:p.Asn413His
NM_001136114.2:c.886A>C	NP_001129586.1:p.Asn296His
NM_001353193.2:c.1303A>C	NP_001340122.2:p.Asn435His
NM_001353194.2:c.1075A>C	NP_001340123.1:p.Asn359His
NM_001353195.2:c.886A>C	NP_001340124.1:p.Asn296His
NM_001353196.2:c.1147A>C	NP_001340125.1:p.Asn383His
NM_001353197.2:c.1141A>C	NP_001340126.2:p.Asn381His
NM_001353198.2:c.1141A>C	NP_001340127.2:p.Asn381His
NM_001353199.2:c.952A>C	NP_001340128.2:p.Asn318His
NM_001353200.2:c.781A>C	NP_001340129.1:p.Asn261His
NM_001374689.1:c.1225A>C	NP_001361618.1:p.Asn409His
NM_001374690.1:c.1237A>C	NP_001361619.1:p.Asn413His
NM_001374691.1:c.886A>C	NP_001361620.1:p.Asn296His
NM_001374692.1:c.886A>C	NP_001361621.1:p.Asn296His
NM_001374693.1:c.886A>C	NP_001361622.1:p.Asn296His
NM_001374695.1:c.847A>C	NP_001361624.1:p.Asn283His
NM_007171.4:c.1303A>C	NP_009102.4:p.Asn435His
NR_148391.2:n.1271A>C
NR_148392.2:n.1489A>C
NR_148393.2:n.1271A>C
NR_148394.2:n.1164A>C
NR_148395.2:n.1423A>C
NR_148396.2:n.1057A>C
NR_148397.2:n.1321A>C
NR_148398.2:n.1276A>C
NR_148399.2:n.1663A>C
NR_148400.2:n.1262A>C