Canonical Allele Identifier: CA375311512

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134393910T>G (hg19) ; chr9:g.131518523T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518523T>G , CM000671.2:g.131518523T>G	GRCh38
NC_000009.11:g.134393910T>G , CM000671.1:g.134393910T>G	GRCh37
NC_000009.10:g.133383731T>G	NCBI36
NG_008896.1:g.20622T>G
NG_008896.2:g.20622T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1189T>G	ENSP00000343034.7:p.Ser397Ala
ENST00000404875.7:n.1891T>G
ENST00000423007.6:c.1408T>G	ENSP00000404119.2:p.Ser470Ala
ENST00000677295.2:c.*1695T>G	ENSP00000504346.2:n.*1695T>G
ENST00000678264.2:c.*1534T>G	ENSP00000503157.2:n.*1534T>G
ENST00000682070.1:n.1816T>G
ENST00000682535.1:n.123T>G
ENST00000682539.1:c.289T>G
ENST00000682813.1:n.1616T>G
ENST00000683110.1:n.79T>G
ENST00000683392.1:n.4098T>G
ENST00000683712.1:n.1756T>G
ENST00000683900.1:n.3251T>G
ENST00000684062.1:n.2017T>G
ENST00000684579.1:n.3197T>G
ENST00000684679.1:n.578T>G
ENST00000341012.12:c.1189T>G	ENSP00000343034.7:p.Ser397Ala
ENST00000372220.5:c.220T>G	ENSP00000361294.5:p.Ser74Ala
ENST00000372228.9:c.1417T>G	ENSP00000361302.3:p.Ser473Ala
ENST00000402686.8:c.1351T>G MANE Select	ENSP00000385797.4:p.Ser451Ala
ENST00000676640.1:c.1351T>G	ENSP00000503281.1:p.Ser451Ala
ENST00000676803.1:c.526T>G	ENSP00000503093.1:p.Ser176Ala
ENST00000676835.1:c.*566T>G	ENSP00000502911.1:n.*566T>G
ENST00000677029.1:c.895T>G	ENSP00000502936.1:p.Ser299Ala
ENST00000677099.1:c.*1061T>G	ENSP00000504553.1:n.*1061T>G
ENST00000677216.1:c.1000T>G	ENSP00000503772.1:p.Ser334Ala
ENST00000677221.1:n.376T>G
ENST00000677295.1:c.*728T>G	ENSP00000504346.1:n.*728T>G
ENST00000677444.1:c.1157T>G
ENST00000677586.1:n.832T>G
ENST00000677626.1:c.1000T>G	ENSP00000503552.1:p.Ser334Ala
ENST00000677677.1:n.1311T>G
ENST00000677853.1:c.*359T>G	ENSP00000503488.1:n.*359T>G
ENST00000677983.1:n.440T>G
ENST00000678202.1:n.371T>G
ENST00000678264.1:c.*728T>G	ENSP00000503157.1:n.*728T>G
ENST00000678303.1:c.1261T>G	ENSP00000503696.1:p.Ser421Ala
ENST00000678366.1:c.*1600T>G	ENSP00000504353.1:n.*1600T>G
ENST00000678546.1:c.*1296T>G	ENSP00000503062.1:n.*1296T>G
ENST00000678548.1:c.*1423T>G	ENSP00000503934.1:n.*1423T>G
ENST00000678626.1:n.1048T>G
ENST00000678733.1:c.432T>G
ENST00000678739.1:c.*1677T>G	ENSP00000503806.1:n.*1677T>G
ENST00000678795.1:n.438T>G
ENST00000678833.1:c.*798T>G	ENSP00000503893.1:n.*798T>G
ENST00000678942.1:c.531T>G	ENSP00000504690.1:n.531T>G
ENST00000679023.1:c.1189T>G	ENSP00000503718.1:p.Ser397Ala
ENST00000679076.1:c.970T>G
ENST00000679111.1:c.1351T>G	ENSP00000504257.1:p.Ser451Ala
ENST00000679189.1:c.1000T>G	ENSP00000503356.1:p.Ser334Ala
ENST00000341012.11:c.1189T>G	ENSP00000343034.7:p.Ser397Ala
ENST00000372220.4:c.214T>G	ENSP00000361294.4:p.Ser72Ala
ENST00000372228.7:c.1417T>G	ENSP00000361302.3:p.Ser473Ala
ENST00000402686.7:c.1351T>G	ENSP00000385797.3:p.Ser451Ala
ENST00000404875.6:c.1000T>G	ENSP00000384531.2:p.Ser334Ala
ENST00000423007.5:c.1351T>G	ENSP00000404119.1:p.Ser451Ala
ENST00000485278.5:n.1906T>G
NM_001077365.1:c.1351T>G	NP_001070833.1:p.Ser451Ala
NM_001077366.1:c.1189T>G	NP_001070834.1:p.Ser397Ala
NM_001136113.1:c.1351T>G	NP_001129585.1:p.Ser451Ala
NM_001136114.1:c.1000T>G	NP_001129586.1:p.Ser334Ala
NM_007171.3:c.1417T>G	NP_009102.3:p.Ser473Ala
XM_005272156.1:c.1417T>G	XP_005272213.1:p.Ser473Ala
XM_005272158.1:c.1255T>G	XP_005272215.1:p.Ser419Ala
XM_005272159.1:c.1066T>G	XP_005272216.1:p.Ser356Ala
XM_005272162.1:c.220T>G	XP_005272219.1:p.Ser74Ala
XM_006716932.1:c.1066T>G	XP_006716995.1:p.Ser356Ala
XM_011518140.1:c.1270T>G	XP_011516442.1:p.Ser424Ala
XM_011518141.1:c.1204T>G	XP_011516443.1:p.Ser402Ala
XM_011518142.1:c.1108T>G	XP_011516444.1:p.Ser370Ala
XM_011518143.1:c.1102T>G	XP_011516445.1:p.Ser368Ala
XM_011518144.1:c.1417T>G	XP_011516446.1:p.Ser473Ala
XM_011518145.1:c.961T>G	XP_011516447.1:p.Ser321Ala
XM_011518146.1:c.1102T>G	XP_011516448.1:p.Ser368Ala
XM_011518147.1:c.289T>G	XP_011516449.1:p.Ser97Ala
XR_929703.1:n.1593T>G
NM_001353193.1:c.1417T>G	NP_001340122.1:p.Ser473Ala
NM_001353194.1:c.1189T>G	NP_001340123.1:p.Ser397Ala
NM_001353195.1:c.1000T>G	NP_001340124.1:p.Ser334Ala
NM_001353196.1:c.1261T>G	NP_001340125.1:p.Ser421Ala
NM_001353197.1:c.1255T>G	NP_001340126.1:p.Ser419Ala
NM_001353198.1:c.1255T>G	NP_001340127.1:p.Ser419Ala
NM_001353199.1:c.1066T>G	NP_001340128.1:p.Ser356Ala
NM_001353200.1:c.895T>G	NP_001340129.1:p.Ser299Ala
NR_148391.1:n.1401T>G
NR_148392.1:n.1619T>G
NR_148393.1:n.1401T>G
NR_148394.1:n.1294T>G
NR_148395.1:n.1553T>G
NR_148396.1:n.1187T>G
NR_148397.1:n.1451T>G
NR_148398.1:n.1406T>G
NR_148399.1:n.1793T>G
NR_148400.1:n.1392T>G
XM_005272162.3:c.220T>G	XP_005272219.1:p.Ser74Ala
XM_006716932.2:c.1066T>G	XP_006716995.1:p.Ser356Ala
XM_011518140.2:c.1270T>G	XP_011516442.1:p.Ser424Ala
XM_011518141.2:c.1204T>G	XP_011516443.1:p.Ser402Ala
XM_011518142.2:c.1108T>G	XP_011516444.1:p.Ser370Ala
XM_011518143.2:c.1102T>G	XP_011516445.1:p.Ser368Ala
XM_011518145.2:c.961T>G	XP_011516447.1:p.Ser321Ala
XM_017014205.2:c.220T>G	XP_016869694.1:p.Ser74Ala
XM_024447380.1:c.220T>G	XP_024303148.1:p.Ser74Ala
XM_024447381.1:c.526T>G	XP_024303149.1:p.Ser176Ala
XM_024447382.1:c.220T>G	XP_024303150.1:p.Ser74Ala
XR_001746160.2:n.1521T>G
XR_001746162.2:n.1587T>G
XR_001746164.1:n.1304T>G
XR_001746166.2:n.1738T>G
NM_001077365.2:c.1351T>G MANE Select	NP_001070833.1:p.Ser451Ala
NM_001077366.2:c.1189T>G	NP_001070834.1:p.Ser397Ala
NM_001136113.2:c.1351T>G	NP_001129585.1:p.Ser451Ala
NM_001136114.2:c.1000T>G	NP_001129586.1:p.Ser334Ala
NM_001353193.2:c.1417T>G	NP_001340122.2:p.Ser473Ala
NM_001353194.2:c.1189T>G	NP_001340123.1:p.Ser397Ala
NM_001353195.2:c.1000T>G	NP_001340124.1:p.Ser334Ala
NM_001353196.2:c.1261T>G	NP_001340125.1:p.Ser421Ala
NM_001353197.2:c.1255T>G	NP_001340126.2:p.Ser419Ala
NM_001353198.2:c.1255T>G	NP_001340127.2:p.Ser419Ala
NM_001353199.2:c.1066T>G	NP_001340128.2:p.Ser356Ala
NM_001353200.2:c.895T>G	NP_001340129.1:p.Ser299Ala
NM_001374689.1:c.1339T>G	NP_001361618.1:p.Ser447Ala
NM_001374690.1:c.1351T>G	NP_001361619.1:p.Ser451Ala
NM_001374691.1:c.1000T>G	NP_001361620.1:p.Ser334Ala
NM_001374692.1:c.1000T>G	NP_001361621.1:p.Ser334Ala
NM_001374693.1:c.1000T>G	NP_001361622.1:p.Ser334Ala
NM_001374695.1:c.961T>G	NP_001361624.1:p.Ser321Ala
NM_007171.4:c.1417T>G	NP_009102.4:p.Ser473Ala
NR_148391.2:n.1385T>G
NR_148392.2:n.1603T>G
NR_148393.2:n.1385T>G
NR_148394.2:n.1278T>G
NR_148395.2:n.1537T>G
NR_148396.2:n.1171T>G
NR_148397.2:n.1435T>G
NR_148398.2:n.1390T>G
NR_148399.2:n.1777T>G
NR_148400.2:n.1376T>G