Canonical Allele Identifier: CA16609558

Linked Data

ClinVar Variation Id: 402258
dbSNP Id: rs1060499797

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108903149G>A , CM000663.2:g.108903149G>A GRCh38
NC_000001.10:g.109445771G>A , CM000663.1:g.109445771G>A GRCh37
NC_000001.9:g.109247294G>A NCBI36
NG_028108.1:g.31169G>A
NG_028108.2:g.32800G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000690509.1:c.*46-20901C>T (CLCC1) ENSP00000510142.1:n.*46-20901C>T
ENST00000264126.9:c.977G>A (GPSM2) MANE Select ENSP00000264126.3:p.Trp326Ter
ENST00000357393.6:c.1-53573C>T (AKNAD1) ENSP00000349968.6:n.1-53573C>T
ENST00000441735.2:c.977G>A (GPSM2) ENSP00000390629.2:p.Trp326Ter
ENST00000446797.2:c.977G>A (GPSM2) ENSP00000392138.2:p.Trp326Ter
ENST00000642355.1:c.977G>A (GPSM2) ENSP00000496104.1:p.Trp326Ter
ENST00000643643.1:c.66G>A (GPSM2)
ENST00000645164.2:c.977G>A (GPSM2) ENSP00000496756.2:p.Trp326Ter
ENST00000645255.1:c.499G>A (GPSM2)
ENST00000674700.1:c.920G>A (GPSM2) ENSP00000501743.1:p.Trp307Ter
ENST00000674731.1:c.920G>A (GPSM2) ENSP00000502401.1:p.Trp307Ter
ENST00000674914.1:c.1028G>A (GPSM2) ENSP00000501579.1:p.Trp343Ter
ENST00000675086.1:c.977G>A (GPSM2) ENSP00000502476.1:p.Trp326Ter
ENST00000675087.1:c.1028G>A (GPSM2) ENSP00000502020.1:p.Trp343Ter
ENST00000675617.1:n.1539G>A (GPSM2)
ENST00000675776.1:n.1472G>A (GPSM2)
ENST00000675829.1:n.2674G>A (GPSM2)
ENST00000676184.1:c.977G>A (GPSM2) ENSP00000502178.1:p.Trp326Ter
ENST00000676404.1:c.920G>A (GPSM2) ENSP00000502346.1:p.Trp307Ter
ENST00000264126.7:c.977G>A (GPSM2) ENSP00000264126.3:p.Trp326Ter
ENST00000357393.5:c.115-53573C>T ENSP00000349968.5:n.115-53573C>T
ENST00000406462.6:c.977G>A (GPSM2) ENSP00000385510.1:p.Trp326Ter
NM_013296.4:c.977G>A (GPSM2) NP_037428.3:p.Trp326Ter
XM_005270787.2:c.977G>A (GPSM2) XP_005270844.1:p.Trp326Ter
XM_006710589.1:c.920G>A (GPSM2) XP_006710652.1:p.Trp307Ter
XM_011541301.1:c.977G>A (GPSM2) XP_011539603.1:p.Trp326Ter
XM_011541302.1:c.977G>A (GPSM2) XP_011539604.1:p.Trp326Ter
XM_011541303.1:c.977G>A (GPSM2) XP_011539605.1:p.Trp326Ter
NM_001321038.1:c.977G>A (GPSM2) NP_001307967.1:p.Trp326Ter
NM_001321039.1:c.977G>A (GPSM2) NP_001307968.1:p.Trp326Ter
XM_006710589.3:c.920G>A (GPSM2) XP_006710652.1:p.Trp307Ter
XM_011541301.2:c.977G>A (GPSM2) XP_011539603.1:p.Trp326Ter
XM_011541302.3:c.977G>A (GPSM2) XP_011539604.1:p.Trp326Ter
XM_011541303.3:c.977G>A (GPSM2) XP_011539605.1:p.Trp326Ter
XM_017001097.2:c.977G>A (GPSM2) XP_016856586.1:p.Trp326Ter
XM_017001098.2:c.977G>A (GPSM2) XP_016856587.1:p.Trp326Ter
NM_013296.5:c.977G>A (GPSM2) MANE Select NP_037428.3:p.Trp326Ter
NM_001321038.2:c.977G>A (GPSM2) NP_001307967.1:p.Trp326Ter
NM_001321039.2:c.977G>A (GPSM2) NP_001307968.1:p.Trp326Ter
NM_001321039.3:c.977G>A (GPSM2) NP_001307968.1:p.Trp326Ter