Canonical Allele Identifier: CA483894744
Gene: ATP7B HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.52518380G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944244G>A , CM000675.2:g.51944244G>A GRCh38
NC_000013.10:g.52518380G>A , CM000675.1:g.52518380G>A GRCh37
NC_000013.9:g.51416381G>A NCBI36
NG_008806.1:g.72251C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000634296.2:c.*894-1690C>T ENSP00000489512.2:n.*894-1690C>T
ENST00000673864.2:c.*1852C>T ENSP00000501045.2:n.*1852C>T
ENST00000674147.2:c.2487C>T ENSP00000500964.2:p.Val829=
ENST00000242839.10:c.3108C>T MANE Select ENSP00000242839.5:p.Val1036=
ENST00000344297.9:c.2487C>T ENSP00000342559.5:p.Val829=
ENST00000400366.6:c.2775C>T ENSP00000383217.3:p.Val925=
ENST00000448424.7:c.2856C>T ENSP00000416738.3:p.Val952=
ENST00000673772.1:c.2874C>T ENSP00000501168.1:p.Val958=
ENST00000673867.1:n.3247C>T
ENST00000674126.1:n.3471C>T
ENST00000674147.1:c.2043C>T ENSP00000500964.1:p.Val681=
ENST00000242839.8:c.3108C>T ENSP00000242839.4:p.Val1036=
ENST00000344297.8:c.2487C>T ENSP00000342559.5:p.Val829=
ENST00000400366.5:c.2775C>T ENSP00000383217.3:p.Val925=
ENST00000400370.8:c.1818C>T ENSP00000383221.3:p.Val606=
ENST00000418097.7:c.2913C>T ENSP00000393343.2:p.Val971=
ENST00000448424.6:c.2874C>T ENSP00000416738.2:p.Val958=
ENST00000466629.1:n.328C>T
ENST00000634296.1:c.1022-1690C>T
ENST00000634308.1:c.*209C>T ENSP00000489234.1:n.*209C>T
ENST00000634620.1:n.3852C>T
ENST00000634810.1:n.2453C>T
ENST00000634844.1:c.2964C>T ENSP00000489398.1:p.Val988=
ENST00000635406.1:n.454C>T
NM_000053.3:c.3108C>T NP_000044.2:p.Val1036=
NM_001005918.2:c.2487C>T NP_001005918.1:p.Val829=
NM_001243182.1:c.2775C>T NP_001230111.1:p.Val925=
XM_005266423.2:c.3012C>T XP_005266480.1:p.Val1004=
XM_005266424.3:c.3012C>T XP_005266481.1:p.Val1004=
XM_005266427.2:c.2874C>T XP_005266484.1:p.Val958=
XM_005266428.1:c.2856C>T XP_005266485.1:p.Val952=
XM_005266430.3:c.3108C>T XP_005266487.1:p.Val1036=
XM_005266431.2:c.3072C>T XP_005266488.1:p.Val1024=
XM_005266432.2:c.2622C>T XP_005266489.1:p.Val874=
XM_006719837.2:c.3012C>T XP_006719900.1:p.Val1004=
XM_006719838.1:c.924C>T XP_006719901.1:p.Val308=
XM_006719839.1:c.877-1690C>T XP_006719902.1:n.877-1690C>T
XM_011535117.1:c.3012C>T XP_011533419.1:p.Val1004=
XM_011535118.1:c.2973C>T XP_011533420.1:p.Val991=
XM_011535119.1:c.3061-1690C>T XP_011533421.1:n.3061-1690C>T
XM_011535120.1:c.2694C>T XP_011533422.1:p.Val898=
XM_011535121.1:c.2731-1690C>T XP_011533423.1:n.2731-1690C>T
XM_011535122.1:c.1776C>T XP_011533424.1:p.Val592=
XR_941601.1:n.3327C>T
XR_941602.1:n.3327C>T
XR_941603.1:n.3327C>T
XR_941604.1:n.3327C>T
NM_001330578.1:c.2874C>T NP_001317507.1:p.Val958=
NM_001330579.1:c.2856C>T NP_001317508.1:p.Val952=
XM_005266424.4:c.3012C>T XP_005266481.1:p.Val1004=
XM_005266430.4:c.3108C>T XP_005266487.1:p.Val1036=
XM_005266431.4:c.3072C>T XP_005266488.1:p.Val1024=
XM_006719837.3:c.3012C>T XP_006719900.1:p.Val1004=
XM_011535117.3:c.3012C>T XP_011533419.1:p.Val1004=
XM_017020627.1:c.3012C>T XP_016876116.1:p.Val1004=
NM_000053.4:c.3108C>T MANE Select NP_000044.2:p.Val1036=
NM_001005918.3:c.2487C>T NP_001005918.1:p.Val829=
NM_001330579.2:c.2856C>T NP_001317508.1:p.Val952=
NM_001243182.2:c.2775C>T NP_001230111.1:p.Val925=
NM_001330578.2:c.2874C>T NP_001317507.1:p.Val958=