Canonical Allele Identifier: CA375312035

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134394309C>G (hg19) ; chr9:g.131518922C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518922C>G , CM000671.2:g.131518922C>G	GRCh38
NC_000009.11:g.134394309C>G , CM000671.1:g.134394309C>G	GRCh37
NC_000009.10:g.133384130C>G	NCBI36
NG_008896.1:g.21021C>G
NG_008896.2:g.21021C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1289C>G	ENSP00000343034.7:p.Thr430Arg
ENST00000404875.7:n.1991C>G
ENST00000423007.6:c.1508C>G	ENSP00000404119.2:p.Thr503Arg
ENST00000677295.2:c.*1795C>G	ENSP00000504346.2:n.*1795C>G
ENST00000678264.2:c.*1634C>G	ENSP00000503157.2:n.*1634C>G
ENST00000682070.1:n.1916C>G
ENST00000682539.1:c.389C>G
ENST00000682813.1:n.1855C>G
ENST00000683392.1:n.4198C>G
ENST00000683712.1:n.1856C>G
ENST00000683900.1:n.3351C>G
ENST00000684062.1:n.2117C>G
ENST00000684579.1:n.3297C>G
ENST00000684679.1:n.678C>G
ENST00000341012.12:c.1289C>G	ENSP00000343034.7:p.Thr430Arg
ENST00000372220.5:c.320C>G	ENSP00000361294.5:p.Thr107Arg
ENST00000372228.9:c.1517C>G	ENSP00000361302.3:p.Thr506Arg
ENST00000402686.8:c.1451C>G MANE Select	ENSP00000385797.4:p.Thr484Arg
ENST00000676640.1:c.1451C>G	ENSP00000503281.1:p.Thr484Arg
ENST00000676803.1:c.626C>G	ENSP00000503093.1:p.Thr209Arg
ENST00000676835.1:c.*666C>G	ENSP00000502911.1:n.*666C>G
ENST00000677029.1:c.995C>G	ENSP00000502936.1:p.Thr332Arg
ENST00000677099.1:c.*1161C>G	ENSP00000504553.1:n.*1161C>G
ENST00000677216.1:c.1100C>G	ENSP00000503772.1:p.Thr367Arg
ENST00000677221.1:n.476C>G
ENST00000677295.1:c.*828C>G	ENSP00000504346.1:n.*828C>G
ENST00000677444.1:c.1396C>G
ENST00000677586.1:n.932C>G
ENST00000677626.1:c.1100C>G	ENSP00000503552.1:p.Thr367Arg
ENST00000677677.1:n.1411C>G
ENST00000677853.1:c.*459C>G	ENSP00000503488.1:n.*459C>G
ENST00000678202.1:n.610C>G
ENST00000678264.1:c.*828C>G	ENSP00000503157.1:n.*828C>G
ENST00000678303.1:c.1361C>G	ENSP00000503696.1:p.Thr454Arg
ENST00000678366.1:c.*1700C>G	ENSP00000504353.1:n.*1700C>G
ENST00000678546.1:c.*1396C>G	ENSP00000503062.1:n.*1396C>G
ENST00000678548.1:c.*1523C>G	ENSP00000503934.1:n.*1523C>G
ENST00000678626.1:n.1287C>G
ENST00000678733.1:c.532C>G
ENST00000678739.1:c.*1777C>G	ENSP00000503806.1:n.*1777C>G
ENST00000678833.1:c.*898C>G	ENSP00000503893.1:n.*898C>G
ENST00000679023.1:c.1289C>G	ENSP00000503718.1:p.Thr430Arg
ENST00000679076.1:c.1070C>G
ENST00000679111.1:c.*207C>G	ENSP00000504257.1:n.*207C>G
ENST00000679189.1:c.1100C>G	ENSP00000503356.1:p.Thr367Arg
ENST00000341012.11:c.1289C>G	ENSP00000343034.7:p.Thr430Arg
ENST00000372220.4:c.314C>G	ENSP00000361294.4:p.Thr105Arg
ENST00000372228.7:c.1517C>G	ENSP00000361302.3:p.Thr506Arg
ENST00000402686.7:c.1451C>G	ENSP00000385797.3:p.Thr484Arg
ENST00000404875.6:c.1100C>G	ENSP00000384531.2:p.Thr367Arg
ENST00000423007.5:c.1451C>G	ENSP00000404119.1:p.Thr484Arg
ENST00000467848.1:n.155C>G
ENST00000485278.5:n.2006C>G
NM_001077365.1:c.1451C>G	NP_001070833.1:p.Thr484Arg
NM_001077366.1:c.1289C>G	NP_001070834.1:p.Thr430Arg
NM_001136113.1:c.1451C>G	NP_001129585.1:p.Thr484Arg
NM_001136114.1:c.1100C>G	NP_001129586.1:p.Thr367Arg
NM_007171.3:c.1517C>G	NP_009102.3:p.Thr506Arg
XM_005272156.1:c.1517C>G	XP_005272213.1:p.Thr506Arg
XM_005272158.1:c.1355C>G	XP_005272215.1:p.Thr452Arg
XM_005272159.1:c.1166C>G	XP_005272216.1:p.Thr389Arg
XM_005272162.1:c.320C>G	XP_005272219.1:p.Thr107Arg
XM_006716932.1:c.1166C>G	XP_006716995.1:p.Thr389Arg
XM_011518140.1:c.1370C>G	XP_011516442.1:p.Thr457Arg
XM_011518141.1:c.1304C>G	XP_011516443.1:p.Thr435Arg
XM_011518142.1:c.1208C>G	XP_011516444.1:p.Thr403Arg
XM_011518143.1:c.1202C>G	XP_011516445.1:p.Thr401Arg
XM_011518145.1:c.1061C>G	XP_011516447.1:p.Thr354Arg
XM_011518147.1:c.389C>G	XP_011516449.1:p.Thr130Arg
XR_929703.1:n.1693C>G
NM_001353193.1:c.1517C>G	NP_001340122.1:p.Thr506Arg
NM_001353194.1:c.1289C>G	NP_001340123.1:p.Thr430Arg
NM_001353195.1:c.1100C>G	NP_001340124.1:p.Thr367Arg
NM_001353196.1:c.1361C>G	NP_001340125.1:p.Thr454Arg
NM_001353197.1:c.1355C>G	NP_001340126.1:p.Thr452Arg
NM_001353198.1:c.1355C>G	NP_001340127.1:p.Thr452Arg
NM_001353199.1:c.1166C>G	NP_001340128.1:p.Thr389Arg
NM_001353200.1:c.995C>G	NP_001340129.1:p.Thr332Arg
NR_148391.1:n.1501C>G
NR_148392.1:n.1719C>G
NR_148393.1:n.1640C>G
NR_148394.1:n.1394C>G
NR_148395.1:n.1792C>G
NR_148396.1:n.1426C>G
NR_148397.1:n.1551C>G
NR_148398.1:n.1506C>G
NR_148399.1:n.2032C>G
NR_148400.1:n.1631C>G
XM_005272162.3:c.320C>G	XP_005272219.1:p.Thr107Arg
XM_006716932.2:c.1166C>G	XP_006716995.1:p.Thr389Arg
XM_011518140.2:c.1370C>G	XP_011516442.1:p.Thr457Arg
XM_011518141.2:c.1304C>G	XP_011516443.1:p.Thr435Arg
XM_011518142.2:c.1208C>G	XP_011516444.1:p.Thr403Arg
XM_011518143.2:c.1202C>G	XP_011516445.1:p.Thr401Arg
XM_011518145.2:c.1061C>G	XP_011516447.1:p.Thr354Arg
XM_017014205.2:c.320C>G	XP_016869694.1:p.Thr107Arg
XM_024447380.1:c.320C>G	XP_024303148.1:p.Thr107Arg
XM_024447381.1:c.626C>G	XP_024303149.1:p.Thr209Arg
XM_024447382.1:c.320C>G	XP_024303150.1:p.Thr107Arg
XR_001746160.2:n.1621C>G
XR_001746162.2:n.1826C>G
XR_001746164.1:n.1543C>G
XR_001746166.2:n.1838C>G
NM_001077365.2:c.1451C>G MANE Select	NP_001070833.1:p.Thr484Arg
NM_001077366.2:c.1289C>G	NP_001070834.1:p.Thr430Arg
NM_001136113.2:c.1451C>G	NP_001129585.1:p.Thr484Arg
NM_001136114.2:c.1100C>G	NP_001129586.1:p.Thr367Arg
NM_001353193.2:c.1517C>G	NP_001340122.2:p.Thr506Arg
NM_001353194.2:c.1289C>G	NP_001340123.1:p.Thr430Arg
NM_001353195.2:c.1100C>G	NP_001340124.1:p.Thr367Arg
NM_001353196.2:c.1361C>G	NP_001340125.1:p.Thr454Arg
NM_001353197.2:c.1355C>G	NP_001340126.2:p.Thr452Arg
NM_001353198.2:c.1355C>G	NP_001340127.2:p.Thr452Arg
NM_001353199.2:c.1166C>G	NP_001340128.2:p.Thr389Arg
NM_001353200.2:c.995C>G	NP_001340129.1:p.Thr332Arg
NM_001374689.1:c.1439C>G	NP_001361618.1:p.Thr480Arg
NM_001374690.1:c.1365+385C>G	NP_001361619.1:n.1365+385C>G
NM_001374691.1:c.1100C>G	NP_001361620.1:p.Thr367Arg
NM_001374692.1:c.1100C>G	NP_001361621.1:p.Thr367Arg
NM_001374693.1:c.1100C>G	NP_001361622.1:p.Thr367Arg
NM_001374695.1:c.1061C>G	NP_001361624.1:p.Thr354Arg
NM_007171.4:c.1517C>G	NP_009102.4:p.Thr506Arg
NR_148391.2:n.1485C>G
NR_148392.2:n.1703C>G
NR_148393.2:n.1624C>G
NR_148394.2:n.1378C>G
NR_148395.2:n.1776C>G
NR_148396.2:n.1410C>G
NR_148397.2:n.1535C>G
NR_148398.2:n.1490C>G
NR_148399.2:n.2016C>G
NR_148400.2:n.1615C>G