Canonical Allele Identifier: CA375310210

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134390906A>C (hg19) ; chr9:g.131515519A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131515519A>C , CM000671.2:g.131515519A>C	GRCh38
NC_000009.11:g.134390906A>C , CM000671.1:g.134390906A>C	GRCh37
NC_000009.10:g.133380727A>C	NCBI36
NG_008896.1:g.17618A>C
NG_008896.2:g.17618A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1107A>C	ENSP00000343034.7:p.Arg369Ser
ENST00000404875.7:n.1809A>C
ENST00000423007.6:c.1326A>C	ENSP00000404119.2:p.Arg442Ser
ENST00000677295.2:c.*1613A>C	ENSP00000504346.2:n.*1613A>C
ENST00000678264.2:c.*1452A>C	ENSP00000503157.2:n.*1452A>C
ENST00000682070.1:n.1734A>C
ENST00000682539.1:c.94A>C
ENST00000682813.1:n.1534A>C
ENST00000683392.1:n.4016A>C
ENST00000683712.1:n.1674A>C
ENST00000683900.1:n.3169A>C
ENST00000684062.1:n.1935A>C
ENST00000684579.1:n.3115A>C
ENST00000341012.12:c.1107A>C	ENSP00000343034.7:p.Arg369Ser
ENST00000372220.5:c.138A>C	ENSP00000361294.5:p.Arg46Ser
ENST00000372228.9:c.1335A>C	ENSP00000361302.3:p.Arg445Ser
ENST00000402686.8:c.1269A>C MANE Select	ENSP00000385797.4:p.Arg423Ser
ENST00000676640.1:c.1269A>C	ENSP00000503281.1:p.Arg423Ser
ENST00000676803.1:c.444A>C	ENSP00000503093.1:p.Arg148Ser
ENST00000676835.1:c.*484A>C	ENSP00000502911.1:n.*484A>C
ENST00000677029.1:c.813A>C	ENSP00000502936.1:p.Arg271Ser
ENST00000677099.1:c.*979A>C	ENSP00000504553.1:n.*979A>C
ENST00000677216.1:c.918A>C	ENSP00000503772.1:p.Arg306Ser
ENST00000677295.1:c.*646A>C	ENSP00000504346.1:n.*646A>C
ENST00000677444.1:c.1075A>C
ENST00000677586.1:n.750A>C
ENST00000677626.1:c.918A>C	ENSP00000503552.1:p.Arg306Ser
ENST00000677677.1:n.1229A>C
ENST00000677853.1:c.*277A>C	ENSP00000503488.1:n.*277A>C
ENST00000677944.1:c.531A>C
ENST00000678264.1:c.*646A>C	ENSP00000503157.1:n.*646A>C
ENST00000678303.1:c.1179A>C	ENSP00000503696.1:p.Arg393Ser
ENST00000678366.1:c.*1518A>C	ENSP00000504353.1:n.*1518A>C
ENST00000678546.1:c.*1214A>C	ENSP00000503062.1:n.*1214A>C
ENST00000678548.1:c.*1341A>C	ENSP00000503934.1:n.*1341A>C
ENST00000678626.1:n.966A>C
ENST00000678733.1:c.350A>C
ENST00000678739.1:c.*1595A>C	ENSP00000503806.1:n.*1595A>C
ENST00000678795.1:n.356A>C
ENST00000678833.1:c.*716A>C	ENSP00000503893.1:n.*716A>C
ENST00000678942.1:c.449A>C	ENSP00000504690.1:n.449A>C
ENST00000679023.1:c.1107A>C	ENSP00000503718.1:p.Arg369Ser
ENST00000679076.1:c.888A>C
ENST00000679111.1:c.1269A>C	ENSP00000504257.1:p.Arg423Ser
ENST00000679189.1:c.918A>C	ENSP00000503356.1:p.Arg306Ser
ENST00000341012.11:c.1107A>C	ENSP00000343034.7:p.Arg369Ser
ENST00000372228.7:c.1335A>C	ENSP00000361302.3:p.Arg445Ser
ENST00000402686.7:c.1269A>C	ENSP00000385797.3:p.Arg423Ser
ENST00000404875.6:c.918A>C	ENSP00000384531.2:p.Arg306Ser
ENST00000423007.5:c.1269A>C	ENSP00000404119.1:p.Arg423Ser
ENST00000485278.5:n.1824A>C
NM_001077365.1:c.1269A>C	NP_001070833.1:p.Arg423Ser
NM_001077366.1:c.1107A>C	NP_001070834.1:p.Arg369Ser
NM_001136113.1:c.1269A>C	NP_001129585.1:p.Arg423Ser
NM_001136114.1:c.918A>C	NP_001129586.1:p.Arg306Ser
NM_007171.3:c.1335A>C	NP_009102.3:p.Arg445Ser
XM_005272156.1:c.1335A>C	XP_005272213.1:p.Arg445Ser
XM_005272158.1:c.1173A>C	XP_005272215.1:p.Arg391Ser
XM_005272159.1:c.984A>C	XP_005272216.1:p.Arg328Ser
XM_005272162.1:c.138A>C	XP_005272219.1:p.Arg46Ser
XM_006716932.1:c.984A>C	XP_006716995.1:p.Arg328Ser
XM_011518140.1:c.1188A>C	XP_011516442.1:p.Arg396Ser
XM_011518141.1:c.1122A>C	XP_011516443.1:p.Arg374Ser
XM_011518142.1:c.1026A>C	XP_011516444.1:p.Arg342Ser
XM_011518143.1:c.1020A>C	XP_011516445.1:p.Arg340Ser
XM_011518144.1:c.1335A>C	XP_011516446.1:p.Arg445Ser
XM_011518145.1:c.879A>C	XP_011516447.1:p.Arg293Ser
XM_011518146.1:c.1020A>C	XP_011516448.1:p.Arg340Ser
XR_929703.1:n.1511A>C
NM_001353193.1:c.1335A>C	NP_001340122.1:p.Arg445Ser
NM_001353194.1:c.1107A>C	NP_001340123.1:p.Arg369Ser
NM_001353195.1:c.918A>C	NP_001340124.1:p.Arg306Ser
NM_001353196.1:c.1179A>C	NP_001340125.1:p.Arg393Ser
NM_001353197.1:c.1173A>C	NP_001340126.1:p.Arg391Ser
NM_001353198.1:c.1173A>C	NP_001340127.1:p.Arg391Ser
NM_001353199.1:c.984A>C	NP_001340128.1:p.Arg328Ser
NM_001353200.1:c.813A>C	NP_001340129.1:p.Arg271Ser
NR_148391.1:n.1319A>C
NR_148392.1:n.1537A>C
NR_148393.1:n.1319A>C
NR_148394.1:n.1212A>C
NR_148395.1:n.1471A>C
NR_148396.1:n.1105A>C
NR_148397.1:n.1369A>C
NR_148398.1:n.1324A>C
NR_148399.1:n.1711A>C
NR_148400.1:n.1310A>C
XM_005272162.3:c.138A>C	XP_005272219.1:p.Arg46Ser
XM_006716932.2:c.984A>C	XP_006716995.1:p.Arg328Ser
XM_011518140.2:c.1188A>C	XP_011516442.1:p.Arg396Ser
XM_011518141.2:c.1122A>C	XP_011516443.1:p.Arg374Ser
XM_011518142.2:c.1026A>C	XP_011516444.1:p.Arg342Ser
XM_011518143.2:c.1020A>C	XP_011516445.1:p.Arg340Ser
XM_011518145.2:c.879A>C	XP_011516447.1:p.Arg293Ser
XM_017014205.2:c.138A>C	XP_016869694.1:p.Arg46Ser
XM_024447380.1:c.138A>C	XP_024303148.1:p.Arg46Ser
XM_024447381.1:c.444A>C	XP_024303149.1:p.Arg148Ser
XM_024447382.1:c.138A>C	XP_024303150.1:p.Arg46Ser
XR_001746160.2:n.1439A>C
XR_001746162.2:n.1505A>C
XR_001746164.1:n.1222A>C
XR_001746166.2:n.1656A>C
NM_001077365.2:c.1269A>C MANE Select	NP_001070833.1:p.Arg423Ser
NM_001077366.2:c.1107A>C	NP_001070834.1:p.Arg369Ser
NM_001136113.2:c.1269A>C	NP_001129585.1:p.Arg423Ser
NM_001136114.2:c.918A>C	NP_001129586.1:p.Arg306Ser
NM_001353193.2:c.1335A>C	NP_001340122.2:p.Arg445Ser
NM_001353194.2:c.1107A>C	NP_001340123.1:p.Arg369Ser
NM_001353195.2:c.918A>C	NP_001340124.1:p.Arg306Ser
NM_001353196.2:c.1179A>C	NP_001340125.1:p.Arg393Ser
NM_001353197.2:c.1173A>C	NP_001340126.2:p.Arg391Ser
NM_001353198.2:c.1173A>C	NP_001340127.2:p.Arg391Ser
NM_001353199.2:c.984A>C	NP_001340128.2:p.Arg328Ser
NM_001353200.2:c.813A>C	NP_001340129.1:p.Arg271Ser
NM_001374689.1:c.1257A>C	NP_001361618.1:p.Arg419Ser
NM_001374690.1:c.1269A>C	NP_001361619.1:p.Arg423Ser
NM_001374691.1:c.918A>C	NP_001361620.1:p.Arg306Ser
NM_001374692.1:c.918A>C	NP_001361621.1:p.Arg306Ser
NM_001374693.1:c.918A>C	NP_001361622.1:p.Arg306Ser
NM_001374695.1:c.879A>C	NP_001361624.1:p.Arg293Ser
NM_007171.4:c.1335A>C	NP_009102.4:p.Arg445Ser
NR_148391.2:n.1303A>C
NR_148392.2:n.1521A>C
NR_148393.2:n.1303A>C
NR_148394.2:n.1196A>C
NR_148395.2:n.1455A>C
NR_148396.2:n.1089A>C
NR_148397.2:n.1353A>C
NR_148398.2:n.1308A>C
NR_148399.2:n.1695A>C
NR_148400.2:n.1294A>C