Canonical Allele Identifier: CA388033509

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1409871
• ClinVar RCV Id: RCV001916111
• dbSNP Id: rs1057517310
• MyVariant Identifiers: chr13:g.52523846C>G (hg19) ; chr13:g.51949710C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949710C>G , CM000675.2:g.51949710C>G	GRCh38
NC_000013.10:g.52523846C>G , CM000675.1:g.52523846C>G	GRCh37
NC_000013.9:g.51421847C>G	NCBI36
NG_008806.1:g.66785G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*650G>C	ENSP00000489512.2:n.*650G>C
ENST00000673864.2:c.*1561G>C	ENSP00000501045.2:n.*1561G>C
ENST00000674147.2:c.2244+297G>C	ENSP00000500964.2:n.2244+297G>C
ENST00000242839.10:c.2817G>C MANE Select	ENSP00000242839.5:p.Trp939Cys
ENST00000344297.9:c.2244+297G>C	ENSP00000342559.5:n.2244+297G>C
ENST00000400366.6:c.2484G>C	ENSP00000383217.3:p.Trp828Cys
ENST00000448424.7:c.2565G>C	ENSP00000416738.3:p.Trp855Cys
ENST00000673772.1:c.2583G>C	ENSP00000501168.1:p.Trp861Cys
ENST00000674147.1:c.1800+297G>C	ENSP00000500964.1:n.1800+297G>C
ENST00000242839.8:c.2817G>C	ENSP00000242839.4:p.Trp939Cys
ENST00000344297.8:c.2244+297G>C	ENSP00000342559.5:n.2244+297G>C
ENST00000400366.5:c.2484G>C	ENSP00000383217.3:p.Trp828Cys
ENST00000400370.8:c.1527G>C	ENSP00000383221.3:p.Trp509Cys
ENST00000418097.7:c.2817G>C	ENSP00000393343.2:p.Trp939Cys
ENST00000448424.6:c.2583G>C	ENSP00000416738.2:p.Trp861Cys
ENST00000634296.1:c.778G>C
ENST00000634308.1:c.2583G>C	ENSP00000489234.1:p.Trp861Cys
ENST00000634620.1:n.3609+6G>C
ENST00000634810.1:n.2162G>C
ENST00000634844.1:c.2673G>C	ENSP00000489398.1:p.Trp891Cys
ENST00000635406.1:n.212-3232G>C
NM_000053.3:c.2817G>C	NP_000044.2:p.Trp939Cys
NM_001005918.2:c.2244+297G>C	NP_001005918.1:n.2244+297G>C
NM_001243182.1:c.2484G>C	NP_001230111.1:p.Trp828Cys
XM_005266423.2:c.2721G>C	XP_005266480.1:p.Trp907Cys
XM_005266424.3:c.2721G>C	XP_005266481.1:p.Trp907Cys
XM_005266427.2:c.2583G>C	XP_005266484.1:p.Trp861Cys
XM_005266428.1:c.2565G>C	XP_005266485.1:p.Trp855Cys
XM_005266430.3:c.2817G>C	XP_005266487.1:p.Trp939Cys
XM_005266431.2:c.2781G>C	XP_005266488.1:p.Trp927Cys
XM_005266432.2:c.2331G>C	XP_005266489.1:p.Trp777Cys
XM_006719837.2:c.2721G>C	XP_006719900.1:p.Trp907Cys
XM_006719838.1:c.633G>C	XP_006719901.1:p.Trp211Cys
XM_006719839.1:c.633G>C	XP_006719902.1:p.Trp211Cys
XM_011535117.1:c.2721G>C	XP_011533419.1:p.Trp907Cys
XM_011535118.1:c.2730+297G>C	XP_011533420.1:n.2730+297G>C
XM_011535119.1:c.2817G>C	XP_011533421.1:p.Trp939Cys
XM_011535120.1:c.2403G>C	XP_011533422.1:p.Trp801Cys
XM_011535121.1:c.2730+297G>C	XP_011533423.1:n.2730+297G>C
XM_011535122.1:c.1485G>C	XP_011533424.1:p.Trp495Cys
XR_941601.1:n.3036G>C
XR_941602.1:n.3036G>C
XR_941603.1:n.3036G>C
XR_941604.1:n.3036G>C
NM_001330578.1:c.2583G>C	NP_001317507.1:p.Trp861Cys
NM_001330579.1:c.2565G>C	NP_001317508.1:p.Trp855Cys
XM_005266424.4:c.2721G>C	XP_005266481.1:p.Trp907Cys
XM_005266430.4:c.2817G>C	XP_005266487.1:p.Trp939Cys
XM_005266431.4:c.2781G>C	XP_005266488.1:p.Trp927Cys
XM_006719837.3:c.2721G>C	XP_006719900.1:p.Trp907Cys
XM_011535117.3:c.2721G>C	XP_011533419.1:p.Trp907Cys
XM_017020627.1:c.2721G>C	XP_016876116.1:p.Trp907Cys
NM_000053.4:c.2817G>C MANE Select	NP_000044.2:p.Trp939Cys
NM_001005918.3:c.2244+297G>C	NP_001005918.1:n.2244+297G>C
NM_001330579.2:c.2565G>C	NP_001317508.1:p.Trp855Cys
NM_001243182.2:c.2484G>C	NP_001230111.1:p.Trp828Cys
NM_001330578.2:c.2583G>C	NP_001317507.1:p.Trp861Cys