Canonical Allele Identifier: CA16041672
Gene: ATP7B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370295
ClinVar RCV Id: RCV000411738
dbSNP Id: rs1057516380

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51958509G>T , CM000675.2:g.51958509G>T GRCh38
NC_000013.10:g.52532645G>T , CM000675.1:g.52532645G>T GRCh37
NC_000013.9:g.51430646G>T NCBI36
NG_008806.1:g.57986C>A

Transcript Alleles

HGVS Amino-acid change
NM_000053.3:c.2157C>A VV NP_000044.2:p.Tyr719Ter
NM_001005918.2:c.1870-902C>A VV NP_001005918.1:p.=
NM_001243182.1:c.1824C>A VV NP_001230111.1:p.Tyr608Ter
XM_005266423.2:c.2061C>A XP_005266480.1:p.Tyr687Ter
XM_005266424.3:c.2061C>A XP_005266481.1:p.Tyr687Ter
XM_005266427.2:c.2122-902C>A XP_005266484.1:p.=
XM_005266428.1:c.1905C>A XP_005266485.1:p.Tyr635Ter
XM_005266430.3:c.2157C>A XP_005266487.1:p.Tyr719Ter
XM_005266431.2:c.2121C>A XP_005266488.1:p.Tyr707Ter
XM_005266432.2:c.1870-902C>A XP_005266489.1:p.=
XM_006719837.2:c.2061C>A XP_006719900.1:p.Tyr687Ter
XM_006719838.1:c.-28C>A XP_006719901.1:p.=
XM_006719839.1:c.-28C>A XP_006719902.1:p.=
XM_011535117.1:c.2061C>A XP_011533419.1:p.Tyr687Ter
XM_011535118.1:c.2157C>A XP_011533420.1:p.Tyr719Ter
XM_011535119.1:c.2157C>A XP_011533421.1:p.Tyr719Ter
XM_011535120.1:c.1743C>A XP_011533422.1:p.Tyr581Ter
XM_011535121.1:c.2157C>A XP_011533423.1:p.Tyr719Ter
XM_011535122.1:c.825C>A XP_011533424.1:p.Tyr275Ter
XR_941601.1:n.2376C>A
XR_941602.1:n.2376C>A
XR_941603.1:n.2376C>A
XR_941604.1:n.2376C>A
NM_001330578.1:c.2122-902C>A VV NP_001317507.1:p.=
NM_001330579.1:c.1905C>A VV NP_001317508.1:p.Tyr635Ter
XM_005266424.4:c.2061C>A
XM_005266430.4:c.2157C>A
XM_005266431.4:c.2121C>A
XM_006719837.3:c.2061C>A
XM_011535117.3:c.2061C>A
XM_017020627.1:c.2061C>A XP_016876116.1:p.Tyr687Ter
ENST00000242839.8:c.2157C>A ENSP00000242839.4:p.Tyr719Ter
ENST00000344297.8:c.1870-902C>A ENSP00000342559.5:p.=
ENST00000400366.5:c.1824C>A ENSP00000383217.3:p.Tyr608Ter
ENST00000400370.8:c.1286-8348C>A ENSP00000383221.3:p.=
ENST00000418097.7:c.2157C>A ENSP00000393343.2:p.Tyr719Ter
ENST00000448424.6:c.2122-902C>A ENSP00000416738.2:p.=
ENST00000482841.6:n.1700C>A
ENST00000634296.1:n.118C>A
ENST00000634308.1:c.2122-902C>A ENSP00000489234.1:p.=
ENST00000634620.1:n.2252C>A
ENST00000634810.1:n.1502C>A
ENST00000634844.1:c.2122-109C>A ENSP00000489398.1:p.=
ENST00000635406.1:n.212-12031C>A