Canonical Allele Identifier: CA388016605

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3073858
• ClinVar RCV Id: RCV004016864
• gnomAD v4: 13-51950355-A-G
• MyVariant Identifiers: chr13:g.52524491A>G (hg19) ; chr13:g.51950355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950355A>G , CM000675.2:g.51950355A>G	GRCh38
NC_000013.10:g.52524491A>G , CM000675.1:g.52524491A>G	GRCh37
NC_000013.9:g.51422492A>G	NCBI36
NG_008806.1:g.66140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*325T>C	ENSP00000489512.2:n.*325T>C
ENST00000673864.2:c.*1236T>C	ENSP00000501045.2:n.*1236T>C
ENST00000674147.2:c.2006T>C	ENSP00000500964.2:p.Val669Ala
ENST00000242839.10:c.2492T>C MANE Select	ENSP00000242839.5:p.Val831Ala
ENST00000344297.9:c.2006T>C	ENSP00000342559.5:p.Val669Ala
ENST00000400366.6:c.2159T>C	ENSP00000383217.3:p.Val720Ala
ENST00000448424.7:c.2240T>C	ENSP00000416738.3:p.Val747Ala
ENST00000673772.1:c.2258T>C	ENSP00000501168.1:p.Val753Ala
ENST00000674147.1:c.1562T>C	ENSP00000500964.1:p.Val521Ala
ENST00000242839.8:c.2492T>C	ENSP00000242839.4:p.Val831Ala
ENST00000344297.8:c.2006T>C	ENSP00000342559.5:p.Val669Ala
ENST00000400366.5:c.2159T>C	ENSP00000383217.3:p.Val720Ala
ENST00000400370.8:c.1286-194T>C	ENSP00000383221.3:n.1286-194T>C
ENST00000418097.7:c.2492T>C	ENSP00000393343.2:p.Val831Ala
ENST00000448424.6:c.2258T>C	ENSP00000416738.2:p.Val753Ala
ENST00000634296.1:c.453T>C
ENST00000634308.1:c.2258T>C	ENSP00000489234.1:p.Val753Ala
ENST00000634620.1:n.3290T>C
ENST00000634810.1:n.1837T>C
ENST00000634844.1:c.2348T>C	ENSP00000489398.1:p.Val783Ala
ENST00000635406.1:n.212-3877T>C
NM_000053.3:c.2492T>C	NP_000044.2:p.Val831Ala
NM_001005918.2:c.2006T>C	NP_001005918.1:p.Val669Ala
NM_001243182.1:c.2159T>C	NP_001230111.1:p.Val720Ala
XM_005266423.2:c.2396T>C	XP_005266480.1:p.Val799Ala
XM_005266424.3:c.2396T>C	XP_005266481.1:p.Val799Ala
XM_005266427.2:c.2258T>C	XP_005266484.1:p.Val753Ala
XM_005266428.1:c.2240T>C	XP_005266485.1:p.Val747Ala
XM_005266430.3:c.2492T>C	XP_005266487.1:p.Val831Ala
XM_005266431.2:c.2456T>C	XP_005266488.1:p.Val819Ala
XM_005266432.2:c.2006T>C	XP_005266489.1:p.Val669Ala
XM_006719837.2:c.2396T>C	XP_006719900.1:p.Val799Ala
XM_006719838.1:c.308T>C	XP_006719901.1:p.Val103Ala
XM_006719839.1:c.308T>C	XP_006719902.1:p.Val103Ala
XM_011535117.1:c.2396T>C	XP_011533419.1:p.Val799Ala
XM_011535118.1:c.2492T>C	XP_011533420.1:p.Val831Ala
XM_011535119.1:c.2492T>C	XP_011533421.1:p.Val831Ala
XM_011535120.1:c.2078T>C	XP_011533422.1:p.Val693Ala
XM_011535121.1:c.2492T>C	XP_011533423.1:p.Val831Ala
XM_011535122.1:c.1160T>C	XP_011533424.1:p.Val387Ala
XR_941601.1:n.2711T>C
XR_941602.1:n.2711T>C
XR_941603.1:n.2711T>C
XR_941604.1:n.2711T>C
NM_001330578.1:c.2258T>C	NP_001317507.1:p.Val753Ala
NM_001330579.1:c.2240T>C	NP_001317508.1:p.Val747Ala
XM_005266424.4:c.2396T>C	XP_005266481.1:p.Val799Ala
XM_005266430.4:c.2492T>C	XP_005266487.1:p.Val831Ala
XM_005266431.4:c.2456T>C	XP_005266488.1:p.Val819Ala
XM_006719837.3:c.2396T>C	XP_006719900.1:p.Val799Ala
XM_011535117.3:c.2396T>C	XP_011533419.1:p.Val799Ala
XM_017020627.1:c.2396T>C	XP_016876116.1:p.Val799Ala
NM_000053.4:c.2492T>C MANE Select	NP_000044.2:p.Val831Ala
NM_001005918.3:c.2006T>C	NP_001005918.1:p.Val669Ala
NM_001330579.2:c.2240T>C	NP_001317508.1:p.Val747Ala
NM_001243182.2:c.2159T>C	NP_001230111.1:p.Val720Ala
NM_001330578.2:c.2258T>C	NP_001317507.1:p.Val753Ala