Canonical Allele Identifier: CA375311765

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394240T>C (hg19) ; chr9:g.131518853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518853T>C , CM000671.2:g.131518853T>C	GRCh38
NC_000009.11:g.134394240T>C , CM000671.1:g.134394240T>C	GRCh37
NC_000009.10:g.133384061T>C	NCBI36
NG_008896.1:g.20952T>C
NG_008896.2:g.20952T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1220T>C	ENSP00000343034.7:p.Leu407Pro
ENST00000404875.7:n.1922T>C
ENST00000423007.6:c.1439T>C	ENSP00000404119.2:p.Leu480Pro
ENST00000677295.2:c.*1726T>C	ENSP00000504346.2:n.*1726T>C
ENST00000678264.2:c.*1565T>C	ENSP00000503157.2:n.*1565T>C
ENST00000682070.1:n.1847T>C
ENST00000682539.1:c.320T>C
ENST00000682813.1:n.1786T>C
ENST00000683392.1:n.4129T>C
ENST00000683712.1:n.1787T>C
ENST00000683900.1:n.3282T>C
ENST00000684062.1:n.2048T>C
ENST00000684579.1:n.3228T>C
ENST00000684679.1:n.609T>C
ENST00000341012.12:c.1220T>C	ENSP00000343034.7:p.Leu407Pro
ENST00000372220.5:c.251T>C	ENSP00000361294.5:p.Leu84Pro
ENST00000372228.9:c.1448T>C	ENSP00000361302.3:p.Leu483Pro
ENST00000402686.8:c.1382T>C MANE Select	ENSP00000385797.4:p.Leu461Pro
ENST00000676640.1:c.1382T>C	ENSP00000503281.1:p.Leu461Pro
ENST00000676803.1:c.557T>C	ENSP00000503093.1:p.Leu186Pro
ENST00000676835.1:c.*597T>C	ENSP00000502911.1:n.*597T>C
ENST00000677029.1:c.926T>C	ENSP00000502936.1:p.Leu309Pro
ENST00000677099.1:c.*1092T>C	ENSP00000504553.1:n.*1092T>C
ENST00000677216.1:c.1031T>C	ENSP00000503772.1:p.Leu344Pro
ENST00000677221.1:n.407T>C
ENST00000677295.1:c.*759T>C	ENSP00000504346.1:n.*759T>C
ENST00000677444.1:c.1327T>C
ENST00000677586.1:n.863T>C
ENST00000677626.1:c.1031T>C	ENSP00000503552.1:p.Leu344Pro
ENST00000677677.1:n.1342T>C
ENST00000677853.1:c.*390T>C	ENSP00000503488.1:n.*390T>C
ENST00000678202.1:n.541T>C
ENST00000678264.1:c.*759T>C	ENSP00000503157.1:n.*759T>C
ENST00000678303.1:c.1292T>C	ENSP00000503696.1:p.Leu431Pro
ENST00000678366.1:c.*1631T>C	ENSP00000504353.1:n.*1631T>C
ENST00000678546.1:c.*1327T>C	ENSP00000503062.1:n.*1327T>C
ENST00000678548.1:c.*1454T>C	ENSP00000503934.1:n.*1454T>C
ENST00000678626.1:n.1218T>C
ENST00000678733.1:c.463T>C
ENST00000678739.1:c.*1708T>C	ENSP00000503806.1:n.*1708T>C
ENST00000678833.1:c.*829T>C	ENSP00000503893.1:n.*829T>C
ENST00000679023.1:c.1220T>C	ENSP00000503718.1:p.Leu407Pro
ENST00000679076.1:c.1001T>C
ENST00000679111.1:c.*138T>C	ENSP00000504257.1:n.*138T>C
ENST00000679189.1:c.1031T>C	ENSP00000503356.1:p.Leu344Pro
ENST00000341012.11:c.1220T>C	ENSP00000343034.7:p.Leu407Pro
ENST00000372220.4:c.245T>C	ENSP00000361294.4:p.Leu82Pro
ENST00000372228.7:c.1448T>C	ENSP00000361302.3:p.Leu483Pro
ENST00000402686.7:c.1382T>C	ENSP00000385797.3:p.Leu461Pro
ENST00000404875.6:c.1031T>C	ENSP00000384531.2:p.Leu344Pro
ENST00000423007.5:c.1382T>C	ENSP00000404119.1:p.Leu461Pro
ENST00000467848.1:n.86T>C
ENST00000485278.5:n.1937T>C
NM_001077365.1:c.1382T>C	NP_001070833.1:p.Leu461Pro
NM_001077366.1:c.1220T>C	NP_001070834.1:p.Leu407Pro
NM_001136113.1:c.1382T>C	NP_001129585.1:p.Leu461Pro
NM_001136114.1:c.1031T>C	NP_001129586.1:p.Leu344Pro
NM_007171.3:c.1448T>C	NP_009102.3:p.Leu483Pro
XM_005272156.1:c.1448T>C	XP_005272213.1:p.Leu483Pro
XM_005272158.1:c.1286T>C	XP_005272215.1:p.Leu429Pro
XM_005272159.1:c.1097T>C	XP_005272216.1:p.Leu366Pro
XM_005272162.1:c.251T>C	XP_005272219.1:p.Leu84Pro
XM_006716932.1:c.1097T>C	XP_006716995.1:p.Leu366Pro
XM_011518140.1:c.1301T>C	XP_011516442.1:p.Leu434Pro
XM_011518141.1:c.1235T>C	XP_011516443.1:p.Leu412Pro
XM_011518142.1:c.1139T>C	XP_011516444.1:p.Leu380Pro
XM_011518143.1:c.1133T>C	XP_011516445.1:p.Leu378Pro
XM_011518144.1:c.*138T>C	XP_011516446.1:n.*138T>C
XM_011518145.1:c.992T>C	XP_011516447.1:p.Leu331Pro
XM_011518146.1:c.*138T>C	XP_011516448.1:n.*138T>C
XM_011518147.1:c.320T>C	XP_011516449.1:p.Leu107Pro
XR_929703.1:n.1624T>C
NM_001353193.1:c.1448T>C	NP_001340122.1:p.Leu483Pro
NM_001353194.1:c.1220T>C	NP_001340123.1:p.Leu407Pro
NM_001353195.1:c.1031T>C	NP_001340124.1:p.Leu344Pro
NM_001353196.1:c.1292T>C	NP_001340125.1:p.Leu431Pro
NM_001353197.1:c.1286T>C	NP_001340126.1:p.Leu429Pro
NM_001353198.1:c.1286T>C	NP_001340127.1:p.Leu429Pro
NM_001353199.1:c.1097T>C	NP_001340128.1:p.Leu366Pro
NM_001353200.1:c.926T>C	NP_001340129.1:p.Leu309Pro
NR_148391.1:n.1432T>C
NR_148392.1:n.1650T>C
NR_148393.1:n.1571T>C
NR_148394.1:n.1325T>C
NR_148395.1:n.1723T>C
NR_148396.1:n.1357T>C
NR_148397.1:n.1482T>C
NR_148398.1:n.1437T>C
NR_148399.1:n.1963T>C
NR_148400.1:n.1562T>C
XM_005272162.3:c.251T>C	XP_005272219.1:p.Leu84Pro
XM_006716932.2:c.1097T>C	XP_006716995.1:p.Leu366Pro
XM_011518140.2:c.1301T>C	XP_011516442.1:p.Leu434Pro
XM_011518141.2:c.1235T>C	XP_011516443.1:p.Leu412Pro
XM_011518142.2:c.1139T>C	XP_011516444.1:p.Leu380Pro
XM_011518143.2:c.1133T>C	XP_011516445.1:p.Leu378Pro
XM_011518145.2:c.992T>C	XP_011516447.1:p.Leu331Pro
XM_017014205.2:c.251T>C	XP_016869694.1:p.Leu84Pro
XM_024447380.1:c.251T>C	XP_024303148.1:p.Leu84Pro
XM_024447381.1:c.557T>C	XP_024303149.1:p.Leu186Pro
XM_024447382.1:c.251T>C	XP_024303150.1:p.Leu84Pro
XR_001746160.2:n.1552T>C
XR_001746162.2:n.1757T>C
XR_001746164.1:n.1474T>C
XR_001746166.2:n.1769T>C
NM_001077365.2:c.1382T>C MANE Select	NP_001070833.1:p.Leu461Pro
NM_001077366.2:c.1220T>C	NP_001070834.1:p.Leu407Pro
NM_001136113.2:c.1382T>C	NP_001129585.1:p.Leu461Pro
NM_001136114.2:c.1031T>C	NP_001129586.1:p.Leu344Pro
NM_001353193.2:c.1448T>C	NP_001340122.2:p.Leu483Pro
NM_001353194.2:c.1220T>C	NP_001340123.1:p.Leu407Pro
NM_001353195.2:c.1031T>C	NP_001340124.1:p.Leu344Pro
NM_001353196.2:c.1292T>C	NP_001340125.1:p.Leu431Pro
NM_001353197.2:c.1286T>C	NP_001340126.2:p.Leu429Pro
NM_001353198.2:c.1286T>C	NP_001340127.2:p.Leu429Pro
NM_001353199.2:c.1097T>C	NP_001340128.2:p.Leu366Pro
NM_001353200.2:c.926T>C	NP_001340129.1:p.Leu309Pro
NM_001374689.1:c.1370T>C	NP_001361618.1:p.Leu457Pro
NM_001374690.1:c.1365+316T>C	NP_001361619.1:n.1365+316T>C
NM_001374691.1:c.1031T>C	NP_001361620.1:p.Leu344Pro
NM_001374692.1:c.1031T>C	NP_001361621.1:p.Leu344Pro
NM_001374693.1:c.1031T>C	NP_001361622.1:p.Leu344Pro
NM_001374695.1:c.992T>C	NP_001361624.1:p.Leu331Pro
NM_007171.4:c.1448T>C	NP_009102.4:p.Leu483Pro
NR_148391.2:n.1416T>C
NR_148392.2:n.1634T>C
NR_148393.2:n.1555T>C
NR_148394.2:n.1309T>C
NR_148395.2:n.1707T>C
NR_148396.2:n.1341T>C
NR_148397.2:n.1466T>C
NR_148398.2:n.1421T>C
NR_148399.2:n.1947T>C
NR_148400.2:n.1546T>C