Canonical Allele Identifier: CA388032453

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1522643
• ClinVar RCV Id: RCV002036164
• dbSNP Id: rs121907996
• MyVariant Identifiers: chr13:g.52520574C>G (hg19) ; chr13:g.51946438C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946438C>G , CM000675.2:g.51946438C>G	GRCh38
NC_000013.10:g.52520574C>G , CM000675.1:g.52520574C>G	GRCh37
NC_000013.9:g.51418575C>G	NCBI36
NG_008806.1:g.70057G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*739G>C	ENSP00000489512.2:n.*739G>C
ENST00000673864.2:c.*1650G>C	ENSP00000501045.2:n.*1650G>C
ENST00000674147.2:c.2285G>C	ENSP00000500964.2:p.Arg762Pro
ENST00000242839.10:c.2906G>C MANE Select	ENSP00000242839.5:p.Arg969Pro
ENST00000344297.9:c.2285G>C	ENSP00000342559.5:p.Arg762Pro
ENST00000400366.6:c.2573G>C	ENSP00000383217.3:p.Arg858Pro
ENST00000448424.7:c.2654G>C	ENSP00000416738.3:p.Arg885Pro
ENST00000673772.1:c.2672G>C	ENSP00000501168.1:p.Arg891Pro
ENST00000673867.1:n.1053G>C
ENST00000674126.1:n.3269G>C
ENST00000674147.1:c.1841G>C	ENSP00000500964.1:p.Arg614Pro
ENST00000242839.8:c.2906G>C	ENSP00000242839.4:p.Arg969Pro
ENST00000344297.8:c.2285G>C	ENSP00000342559.5:p.Arg762Pro
ENST00000400366.5:c.2573G>C	ENSP00000383217.3:p.Arg858Pro
ENST00000400370.8:c.1616G>C	ENSP00000383221.3:p.Arg539Pro
ENST00000418097.7:c.2866-2147G>C	ENSP00000393343.2:n.2866-2147G>C
ENST00000448424.6:c.2672G>C	ENSP00000416738.2:p.Arg891Pro
ENST00000466629.1:n.126G>C
ENST00000634296.1:c.867G>C
ENST00000634308.1:c.*7G>C	ENSP00000489234.1:n.*7G>C
ENST00000634620.1:n.3650G>C
ENST00000634810.1:n.2251G>C
ENST00000634844.1:c.2762G>C	ENSP00000489398.1:p.Arg921Pro
ENST00000635406.1:n.252G>C
NM_000053.3:c.2906G>C	NP_000044.2:p.Arg969Pro
NM_001005918.2:c.2285G>C	NP_001005918.1:p.Arg762Pro
NM_001243182.1:c.2573G>C	NP_001230111.1:p.Arg858Pro
XM_005266423.2:c.2810G>C	XP_005266480.1:p.Arg937Pro
XM_005266424.3:c.2810G>C	XP_005266481.1:p.Arg937Pro
XM_005266427.2:c.2672G>C	XP_005266484.1:p.Arg891Pro
XM_005266428.1:c.2654G>C	XP_005266485.1:p.Arg885Pro
XM_005266430.3:c.2906G>C	XP_005266487.1:p.Arg969Pro
XM_005266431.2:c.2870G>C	XP_005266488.1:p.Arg957Pro
XM_005266432.2:c.2420G>C	XP_005266489.1:p.Arg807Pro
XM_006719837.2:c.2810G>C	XP_006719900.1:p.Arg937Pro
XM_006719838.1:c.722G>C	XP_006719901.1:p.Arg241Pro
XM_006719839.1:c.722G>C	XP_006719902.1:p.Arg241Pro
XM_011535117.1:c.2810G>C	XP_011533419.1:p.Arg937Pro
XM_011535118.1:c.2771G>C	XP_011533420.1:p.Arg924Pro
XM_011535119.1:c.2906G>C	XP_011533421.1:p.Arg969Pro
XM_011535120.1:c.2492G>C	XP_011533422.1:p.Arg831Pro
XM_011535121.1:c.2730+3569G>C	XP_011533423.1:n.2730+3569G>C
XM_011535122.1:c.1574G>C	XP_011533424.1:p.Arg525Pro
XR_941601.1:n.3125G>C
XR_941602.1:n.3125G>C
XR_941603.1:n.3125G>C
XR_941604.1:n.3125G>C
NM_001330578.1:c.2672G>C	NP_001317507.1:p.Arg891Pro
NM_001330579.1:c.2654G>C	NP_001317508.1:p.Arg885Pro
XM_005266424.4:c.2810G>C	XP_005266481.1:p.Arg937Pro
XM_005266430.4:c.2906G>C	XP_005266487.1:p.Arg969Pro
XM_005266431.4:c.2870G>C	XP_005266488.1:p.Arg957Pro
XM_006719837.3:c.2810G>C	XP_006719900.1:p.Arg937Pro
XM_011535117.3:c.2810G>C	XP_011533419.1:p.Arg937Pro
XM_017020627.1:c.2810G>C	XP_016876116.1:p.Arg937Pro
NM_000053.4:c.2906G>C MANE Select	NP_000044.2:p.Arg969Pro
NM_001005918.3:c.2285G>C	NP_001005918.1:p.Arg762Pro
NM_001330579.2:c.2654G>C	NP_001317508.1:p.Arg885Pro
NM_001243182.2:c.2573G>C	NP_001230111.1:p.Arg858Pro
NM_001330578.2:c.2672G>C	NP_001317507.1:p.Arg891Pro