Canonical Allele Identifier: CA388026395

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941147-C-G
• MyVariant Identifiers: chr13:g.52515283C>G (hg19) ; chr13:g.51941147C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941147C>G , CM000675.2:g.51941147C>G	GRCh38
NC_000013.10:g.52515283C>G , CM000675.1:g.52515283C>G	GRCh37
NC_000013.9:g.51413284C>G	NCBI36
NG_008806.1:g.75348G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1140G>C	ENSP00000489512.2:n.*1140G>C
ENST00000673864.2:c.*2234G>C	ENSP00000501045.2:n.*2234G>C
ENST00000674147.2:c.2869G>C	ENSP00000500964.2:p.Asp957His
ENST00000242839.10:c.3490G>C MANE Select	ENSP00000242839.5:p.Asp1164His
ENST00000344297.9:c.2869G>C	ENSP00000342559.5:p.Asp957His
ENST00000400366.6:c.3157G>C	ENSP00000383217.3:p.Asp1053His
ENST00000448424.7:c.3238G>C	ENSP00000416738.3:p.Asp1080His
ENST00000673772.1:c.3256G>C	ENSP00000501168.1:p.Asp1086His
ENST00000673867.1:n.3629G>C
ENST00000674126.1:n.3853G>C
ENST00000674147.1:c.2425G>C	ENSP00000500964.1:p.Asp809His
ENST00000242839.8:c.3490G>C	ENSP00000242839.4:p.Asp1164His
ENST00000344297.8:c.2869G>C	ENSP00000342559.5:p.Asp957His
ENST00000400366.5:c.3157G>C	ENSP00000383217.3:p.Asp1053His
ENST00000400370.8:c.2200G>C	ENSP00000383221.3:p.Asp734His
ENST00000418097.7:c.3295G>C	ENSP00000393343.2:p.Asp1099His
ENST00000448424.6:c.3256G>C	ENSP00000416738.2:p.Asp1086His
ENST00000634296.1:c.1268G>C
ENST00000634308.1:c.*591G>C	ENSP00000489234.1:n.*591G>C
ENST00000634620.1:n.4234G>C
ENST00000634810.1:n.2835G>C
ENST00000634844.1:c.3346G>C	ENSP00000489398.1:p.Asp1116His
NM_000053.3:c.3490G>C	NP_000044.2:p.Asp1164His
NM_001005918.2:c.2869G>C	NP_001005918.1:p.Asp957His
NM_001243182.1:c.3157G>C	NP_001230111.1:p.Asp1053His
XM_005266423.2:c.3394G>C	XP_005266480.1:p.Asp1132His
XM_005266424.3:c.3394G>C	XP_005266481.1:p.Asp1132His
XM_005266427.2:c.3256G>C	XP_005266484.1:p.Asp1086His
XM_005266428.1:c.3238G>C	XP_005266485.1:p.Asp1080His
XM_005266430.3:c.3490G>C	XP_005266487.1:p.Asp1164His
XM_005266431.2:c.3454G>C	XP_005266488.1:p.Asp1152His
XM_005266432.2:c.3004G>C	XP_005266489.1:p.Asp1002His
XM_006719837.2:c.3394G>C	XP_006719900.1:p.Asp1132His
XM_006719838.1:c.1306G>C	XP_006719901.1:p.Asp436His
XM_006719839.1:c.1123G>C	XP_006719902.1:p.Asp375His
XM_011535117.1:c.3394G>C	XP_011533419.1:p.Asp1132His
XM_011535118.1:c.3355G>C	XP_011533420.1:p.Asp1119His
XM_011535119.1:c.3307G>C	XP_011533421.1:p.Asp1103His
XM_011535120.1:c.3076G>C	XP_011533422.1:p.Asp1026His
XM_011535121.1:c.2977G>C	XP_011533423.1:p.Asp993His
XM_011535122.1:c.2158G>C	XP_011533424.1:p.Asp720His
XR_941601.1:n.3709G>C
XR_941602.1:n.3709G>C
XR_941603.1:n.3709G>C
XR_941604.1:n.3709G>C
NM_001330578.1:c.3256G>C	NP_001317507.1:p.Asp1086His
NM_001330579.1:c.3238G>C	NP_001317508.1:p.Asp1080His
XM_005266424.4:c.3394G>C	XP_005266481.1:p.Asp1132His
XM_005266430.4:c.3490G>C	XP_005266487.1:p.Asp1164His
XM_005266431.4:c.3454G>C	XP_005266488.1:p.Asp1152His
XM_006719837.3:c.3394G>C	XP_006719900.1:p.Asp1132His
XM_011535117.3:c.3394G>C	XP_011533419.1:p.Asp1132His
XM_017020627.1:c.3394G>C	XP_016876116.1:p.Asp1132His
NM_000053.4:c.3490G>C MANE Select	NP_000044.2:p.Asp1164His
NM_001005918.3:c.2869G>C	NP_001005918.1:p.Asp957His
NM_001330579.2:c.3238G>C	NP_001317508.1:p.Asp1080His
NM_001243182.2:c.3157G>C	NP_001230111.1:p.Asp1053His
NM_001330578.2:c.3256G>C	NP_001317507.1:p.Asp1086His