Canonical Allele Identifier: CA388033194

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51949668-G-C
• MyVariant Identifiers: chr13:g.52523804G>C (hg19) ; chr13:g.51949668G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949668G>C , CM000675.2:g.51949668G>C	GRCh38
NC_000013.10:g.52523804G>C , CM000675.1:g.52523804G>C	GRCh37
NC_000013.9:g.51421805G>C	NCBI36
NG_008806.1:g.66827C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*692C>G	ENSP00000489512.2:n.*692C>G
ENST00000673864.2:c.*1603C>G	ENSP00000501045.2:n.*1603C>G
ENST00000674147.2:c.2244+339C>G	ENSP00000500964.2:n.2244+339C>G
ENST00000242839.10:c.2859C>G MANE Select	ENSP00000242839.5:p.Tyr953Ter
ENST00000344297.9:c.2244+339C>G	ENSP00000342559.5:n.2244+339C>G
ENST00000400366.6:c.2526C>G	ENSP00000383217.3:p.Tyr842Ter
ENST00000448424.7:c.2607C>G	ENSP00000416738.3:p.Tyr869Ter
ENST00000673772.1:c.2625C>G	ENSP00000501168.1:p.Tyr875Ter
ENST00000674126.1:n.39C>G
ENST00000674147.1:c.1800+339C>G	ENSP00000500964.1:n.1800+339C>G
ENST00000242839.8:c.2859C>G	ENSP00000242839.4:p.Tyr953Ter
ENST00000344297.8:c.2244+339C>G	ENSP00000342559.5:n.2244+339C>G
ENST00000400366.5:c.2526C>G	ENSP00000383217.3:p.Tyr842Ter
ENST00000400370.8:c.1569C>G	ENSP00000383221.3:p.Tyr523Ter
ENST00000418097.7:c.2859C>G	ENSP00000393343.2:p.Tyr953Ter
ENST00000448424.6:c.2625C>G	ENSP00000416738.2:p.Tyr875Ter
ENST00000634296.1:c.820C>G
ENST00000634308.1:c.2625C>G	ENSP00000489234.1:p.Tyr875Ter
ENST00000634620.1:n.3609+48C>G
ENST00000634810.1:n.2204C>G
ENST00000634844.1:c.2715C>G	ENSP00000489398.1:p.Tyr905Ter
ENST00000635406.1:n.212-3190C>G
NM_000053.3:c.2859C>G	NP_000044.2:p.Tyr953Ter
NM_001005918.2:c.2244+339C>G	NP_001005918.1:n.2244+339C>G
NM_001243182.1:c.2526C>G	NP_001230111.1:p.Tyr842Ter
XM_005266423.2:c.2763C>G	XP_005266480.1:p.Tyr921Ter
XM_005266424.3:c.2763C>G	XP_005266481.1:p.Tyr921Ter
XM_005266427.2:c.2625C>G	XP_005266484.1:p.Tyr875Ter
XM_005266428.1:c.2607C>G	XP_005266485.1:p.Tyr869Ter
XM_005266430.3:c.2859C>G	XP_005266487.1:p.Tyr953Ter
XM_005266431.2:c.2823C>G	XP_005266488.1:p.Tyr941Ter
XM_005266432.2:c.2373C>G	XP_005266489.1:p.Tyr791Ter
XM_006719837.2:c.2763C>G	XP_006719900.1:p.Tyr921Ter
XM_006719838.1:c.675C>G	XP_006719901.1:p.Tyr225Ter
XM_006719839.1:c.675C>G	XP_006719902.1:p.Tyr225Ter
XM_011535117.1:c.2763C>G	XP_011533419.1:p.Tyr921Ter
XM_011535118.1:c.2730+339C>G	XP_011533420.1:n.2730+339C>G
XM_011535119.1:c.2859C>G	XP_011533421.1:p.Tyr953Ter
XM_011535120.1:c.2445C>G	XP_011533422.1:p.Tyr815Ter
XM_011535121.1:c.2730+339C>G	XP_011533423.1:n.2730+339C>G
XM_011535122.1:c.1527C>G	XP_011533424.1:p.Tyr509Ter
XR_941601.1:n.3078C>G
XR_941602.1:n.3078C>G
XR_941603.1:n.3078C>G
XR_941604.1:n.3078C>G
NM_001330578.1:c.2625C>G	NP_001317507.1:p.Tyr875Ter
NM_001330579.1:c.2607C>G	NP_001317508.1:p.Tyr869Ter
XM_005266424.4:c.2763C>G	XP_005266481.1:p.Tyr921Ter
XM_005266430.4:c.2859C>G	XP_005266487.1:p.Tyr953Ter
XM_005266431.4:c.2823C>G	XP_005266488.1:p.Tyr941Ter
XM_006719837.3:c.2763C>G	XP_006719900.1:p.Tyr921Ter
XM_011535117.3:c.2763C>G	XP_011533419.1:p.Tyr921Ter
XM_017020627.1:c.2763C>G	XP_016876116.1:p.Tyr921Ter
NM_000053.4:c.2859C>G MANE Select	NP_000044.2:p.Tyr953Ter
NM_001005918.3:c.2244+339C>G	NP_001005918.1:n.2244+339C>G
NM_001330579.2:c.2607C>G	NP_001317508.1:p.Tyr869Ter
NM_001243182.2:c.2526C>G	NP_001230111.1:p.Tyr842Ter
NM_001330578.2:c.2625C>G	NP_001317507.1:p.Tyr875Ter