Canonical Allele Identifier: CA341450686

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108922576A>T , CM000663.2:g.108922576A>T GRCh38
NC_000001.10:g.109465198A>T , CM000663.1:g.109465198A>T GRCh37
NC_000001.9:g.109266721A>T NCBI36
NG_028108.1:g.50596A>T
NG_028108.2:g.52227A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000690509.1:c.*45+12049T>A (CLCC1) ENSP00000510142.1:n.*45+12049T>A
ENST00000264126.9:c.1600A>T (GPSM2) MANE Select ENSP00000264126.3:p.Thr534Ser
ENST00000357393.6:c.-1+40785T>A (AKNAD1) ENSP00000349968.6:n.-1+40785T>A
ENST00000441735.2:c.1600A>T (GPSM2) ENSP00000390629.2:p.Thr534Ser
ENST00000446797.2:c.1600A>T (GPSM2) ENSP00000392138.2:p.Thr534Ser
ENST00000642355.1:c.1600A>T (GPSM2) ENSP00000496104.1:p.Thr534Ser
ENST00000643643.1:c.689A>T (GPSM2)
ENST00000645164.2:c.1600A>T (GPSM2) ENSP00000496756.2:p.Thr534Ser
ENST00000674700.1:c.1543A>T (GPSM2) ENSP00000501743.1:p.Arg515Trp
ENST00000674731.1:c.*317A>T (GPSM2) ENSP00000502401.1:n.*317A>T
ENST00000674914.1:c.1651A>T (GPSM2) ENSP00000501579.1:p.Thr551Ser
ENST00000675086.1:c.1423A>T (GPSM2) ENSP00000502476.1:p.Thr475Ser
ENST00000675087.1:c.1651A>T (GPSM2) ENSP00000502020.1:p.Thr551Ser
ENST00000675740.1:n.1216-1424A>T (GPSM2)
ENST00000676184.1:c.1600A>T (GPSM2) ENSP00000502178.1:p.Thr534Ser
ENST00000676404.1:c.*506A>T (GPSM2) ENSP00000502346.1:n.*506A>T
ENST00000264126.7:c.1600A>T (GPSM2) ENSP00000264126.3:p.Thr534Ser
ENST00000357393.5:c.114+40785T>A ENSP00000349968.5:n.114+40785T>A
ENST00000406462.6:c.1600A>T (GPSM2) ENSP00000385510.1:p.Thr534Ser
ENST00000441735.1:c.369A>T (GPSM2)
NM_013296.4:c.1600A>T (GPSM2) NP_037428.3:p.Thr534Ser
XM_005270787.2:c.1600A>T (GPSM2) XP_005270844.1:p.Thr534Ser
XM_006710589.1:c.1543A>T (GPSM2) XP_006710652.1:p.Thr515Ser
XM_011541301.1:c.1600A>T (GPSM2) XP_011539603.1:p.Thr534Ser
XM_011541302.1:c.1600A>T (GPSM2) XP_011539604.1:p.Thr534Ser
NM_001321038.1:c.1600A>T (GPSM2) NP_001307967.1:p.Thr534Ser
NM_001321039.1:c.1600A>T (GPSM2) NP_001307968.1:p.Thr534Ser
XM_006710589.3:c.1543A>T (GPSM2) XP_006710652.1:p.Thr515Ser
XM_011541301.2:c.1600A>T (GPSM2) XP_011539603.1:p.Thr534Ser
XM_011541302.3:c.1600A>T (GPSM2) XP_011539604.1:p.Thr534Ser
XM_017001097.2:c.1600A>T (GPSM2) XP_016856586.1:p.Thr534Ser
XM_017001098.2:c.1600A>T (GPSM2) XP_016856587.1:p.Thr534Ser
NM_013296.5:c.1600A>T (GPSM2) MANE Select NP_037428.3:p.Thr534Ser
NM_001321038.2:c.1600A>T (GPSM2) NP_001307967.1:p.Thr534Ser
NM_001321039.2:c.1600A>T (GPSM2) NP_001307968.1:p.Thr534Ser
NM_001321039.3:c.1600A>T (GPSM2) NP_001307968.1:p.Thr534Ser