Canonical Allele Identifier: CA375314047

Gene: POMT1

Linked Data

• MyVariant Identifiers: chr9:g.134396859G>A (hg19) ; chr9:g.131521472G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131521472G>A , CM000671.2:g.131521472G>A	GRCh38
NC_000009.11:g.134396859G>A , CM000671.1:g.134396859G>A	GRCh37
NC_000009.10:g.133386680G>A	NCBI36
NG_008896.1:g.23571G>A
NG_008896.2:g.23571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1663G>A	ENSP00000343034.7:p.Asp555Asn
ENST00000404875.7:n.2365G>A
ENST00000423007.6:c.1882G>A	ENSP00000404119.2:p.Asp628Asn
ENST00000677295.2:c.*2169G>A	ENSP00000504346.2:n.*2169G>A
ENST00000678264.2:c.*2008G>A	ENSP00000503157.2:n.*2008G>A
ENST00000682070.1:n.2290G>A
ENST00000682813.1:n.2229G>A
ENST00000683392.1:n.4572G>A
ENST00000683712.1:n.2230G>A
ENST00000683900.1:n.3725G>A
ENST00000684062.1:n.2491G>A
ENST00000684579.1:n.3671G>A
ENST00000684679.1:n.1052G>A
ENST00000341012.12:c.1663G>A	ENSP00000343034.7:p.Asp555Asn
ENST00000372220.5:c.694G>A	ENSP00000361294.5:p.Asp232Asn
ENST00000372228.9:c.1891G>A	ENSP00000361302.3:p.Asp631Asn
ENST00000402686.8:c.1825G>A MANE Select	ENSP00000385797.4:p.Asp609Asn
ENST00000676640.1:c.1825G>A	ENSP00000503281.1:p.Asp609Asn
ENST00000676803.1:c.886G>A	ENSP00000503093.1:p.Asp296Asn
ENST00000676835.1:c.*1040G>A	ENSP00000502911.1:n.*1040G>A
ENST00000677029.1:c.1369G>A	ENSP00000502936.1:p.Asp457Asn
ENST00000677099.1:c.*1535G>A	ENSP00000504553.1:n.*1535G>A
ENST00000677216.1:c.1474G>A	ENSP00000503772.1:p.Asp492Asn
ENST00000677221.1:n.850G>A
ENST00000677295.1:c.*1202G>A	ENSP00000504346.1:n.*1202G>A
ENST00000677444.1:c.1770G>A
ENST00000677586.1:n.1192G>A
ENST00000677626.1:c.1474G>A	ENSP00000503552.1:p.Asp492Asn
ENST00000677853.1:c.*833G>A	ENSP00000503488.1:n.*833G>A
ENST00000678202.1:n.984G>A
ENST00000678264.1:c.*1202G>A	ENSP00000503157.1:n.*1202G>A
ENST00000678303.1:c.1735G>A	ENSP00000503696.1:p.Asp579Asn
ENST00000678366.1:c.*2074G>A	ENSP00000504353.1:n.*2074G>A
ENST00000678546.1:c.*1770G>A	ENSP00000503062.1:n.*1770G>A
ENST00000678548.1:c.*1897G>A	ENSP00000503934.1:n.*1897G>A
ENST00000678626.1:n.1661G>A
ENST00000678739.1:c.*2146G>A	ENSP00000503806.1:n.*2146G>A
ENST00000678833.1:c.*1577G>A	ENSP00000503893.1:n.*1577G>A
ENST00000679023.1:c.1663G>A	ENSP00000503718.1:p.Asp555Asn
ENST00000679076.1:c.1444G>A
ENST00000679111.1:c.*581G>A	ENSP00000504257.1:n.*581G>A
ENST00000679189.1:c.1474G>A	ENSP00000503356.1:p.Asp492Asn
ENST00000341012.11:c.1663G>A	ENSP00000343034.7:p.Asp555Asn
ENST00000372220.4:c.688G>A	ENSP00000361294.4:p.Asp230Asn
ENST00000372228.7:c.1891G>A	ENSP00000361302.3:p.Asp631Asn
ENST00000402686.7:c.1825G>A	ENSP00000385797.3:p.Asp609Asn
ENST00000404875.6:c.1474G>A	ENSP00000384531.2:p.Asp492Asn
ENST00000423007.5:c.1825G>A	ENSP00000404119.1:p.Asp609Asn
ENST00000485278.5:n.2375G>A
ENST00000494883.1:n.368G>A
NM_001077365.1:c.1825G>A	NP_001070833.1:p.Asp609Asn
NM_001077366.1:c.1663G>A	NP_001070834.1:p.Asp555Asn
NM_001136113.1:c.1825G>A	NP_001129585.1:p.Asp609Asn
NM_001136114.1:c.1474G>A	NP_001129586.1:p.Asp492Asn
NM_007171.3:c.1891G>A	NP_009102.3:p.Asp631Asn
XM_005272156.1:c.1891G>A	XP_005272213.1:p.Asp631Asn
XM_005272158.1:c.1729G>A	XP_005272215.1:p.Asp577Asn
XM_005272159.1:c.1540G>A	XP_005272216.1:p.Asp514Asn
XM_005272162.1:c.694G>A	XP_005272219.1:p.Asp232Asn
XM_006716932.1:c.1540G>A	XP_006716995.1:p.Asp514Asn
XM_011518140.1:c.1744G>A	XP_011516442.1:p.Asp582Asn
XM_011518141.1:c.1678G>A	XP_011516443.1:p.Asp560Asn
XM_011518142.1:c.1582G>A	XP_011516444.1:p.Asp528Asn
XM_011518143.1:c.1576G>A	XP_011516445.1:p.Asp526Asn
XM_011518145.1:c.1435G>A	XP_011516447.1:p.Asp479Asn
XM_011518147.1:c.763G>A	XP_011516449.1:p.Asp255Asn
XR_929703.1:n.2067G>A
NM_001353193.1:c.1891G>A	NP_001340122.1:p.Asp631Asn
NM_001353194.1:c.1663G>A	NP_001340123.1:p.Asp555Asn
NM_001353195.1:c.1474G>A	NP_001340124.1:p.Asp492Asn
NM_001353196.1:c.1735G>A	NP_001340125.1:p.Asp579Asn
NM_001353197.1:c.1729G>A	NP_001340126.1:p.Asp577Asn
NM_001353198.1:c.1729G>A	NP_001340127.1:p.Asp577Asn
NM_001353199.1:c.1540G>A	NP_001340128.1:p.Asp514Asn
NM_001353200.1:c.1369G>A	NP_001340129.1:p.Asp457Asn
NR_148391.1:n.1875G>A
NR_148392.1:n.2093G>A
NR_148393.1:n.2014G>A
NR_148394.1:n.1768G>A
NR_148395.1:n.2166G>A
NR_148396.1:n.1800G>A
NR_148397.1:n.1925G>A
NR_148398.1:n.1880G>A
NR_148399.1:n.2406G>A
NR_148400.1:n.2005G>A
XM_005272162.3:c.694G>A	XP_005272219.1:p.Asp232Asn
XM_006716932.2:c.1540G>A	XP_006716995.1:p.Asp514Asn
XM_011518140.2:c.1744G>A	XP_011516442.1:p.Asp582Asn
XM_011518141.2:c.1678G>A	XP_011516443.1:p.Asp560Asn
XM_011518142.2:c.1582G>A	XP_011516444.1:p.Asp528Asn
XM_011518143.2:c.1576G>A	XP_011516445.1:p.Asp526Asn
XM_011518145.2:c.1435G>A	XP_011516447.1:p.Asp479Asn
XM_017014205.2:c.694G>A	XP_016869694.1:p.Asp232Asn
XM_024447380.1:c.694G>A	XP_024303148.1:p.Asp232Asn
XM_024447381.1:c.1000G>A	XP_024303149.1:p.Asp334Asn
XM_024447382.1:c.694G>A	XP_024303150.1:p.Asp232Asn
XR_001746160.2:n.1995G>A
XR_001746162.2:n.2200G>A
XR_001746164.1:n.1917G>A
XR_001746166.2:n.2212G>A
NM_001077365.2:c.1825G>A MANE Select	NP_001070833.1:p.Asp609Asn
NM_001077366.2:c.1663G>A	NP_001070834.1:p.Asp555Asn
NM_001136113.2:c.1825G>A	NP_001129585.1:p.Asp609Asn
NM_001136114.2:c.1474G>A	NP_001129586.1:p.Asp492Asn
NM_001353193.2:c.1891G>A	NP_001340122.2:p.Asp631Asn
NM_001353194.2:c.1663G>A	NP_001340123.1:p.Asp555Asn
NM_001353195.2:c.1474G>A	NP_001340124.1:p.Asp492Asn
NM_001353196.2:c.1735G>A	NP_001340125.1:p.Asp579Asn
NM_001353197.2:c.1729G>A	NP_001340126.2:p.Asp577Asn
NM_001353198.2:c.1729G>A	NP_001340127.2:p.Asp577Asn
NM_001353199.2:c.1540G>A	NP_001340128.2:p.Asp514Asn
NM_001353200.2:c.1369G>A	NP_001340129.1:p.Asp457Asn
NM_001374689.1:c.1813G>A	NP_001361618.1:p.Asp605Asn
NM_001374690.1:c.1606G>A	NP_001361619.1:p.Asp536Asn
NM_001374691.1:c.1474G>A	NP_001361620.1:p.Asp492Asn
NM_001374692.1:c.1474G>A	NP_001361621.1:p.Asp492Asn
NM_001374693.1:c.1474G>A	NP_001361622.1:p.Asp492Asn
NM_001374695.1:c.1435G>A	NP_001361624.1:p.Asp479Asn
NM_007171.4:c.1891G>A	NP_009102.4:p.Asp631Asn
NR_148391.2:n.1859G>A
NR_148392.2:n.2077G>A
NR_148393.2:n.1998G>A
NR_148394.2:n.1752G>A
NR_148395.2:n.2150G>A
NR_148396.2:n.1784G>A
NR_148397.2:n.1909G>A
NR_148398.2:n.1864G>A
NR_148399.2:n.2390G>A
NR_148400.2:n.1989G>A