Canonical Allele Identifier: CA388032212

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 553828
• ClinVar RCV Id: RCV000669351
• dbSNP Id: rs201038679
• gnomAD v4: 13-51946369-G-T
• MyVariant Identifiers: chr13:g.52520505G>T (hg19) ; chr13:g.51946369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946369G>T , CM000675.2:g.51946369G>T	GRCh38
NC_000013.10:g.52520505G>T , CM000675.1:g.52520505G>T	GRCh37
NC_000013.9:g.51418506G>T	NCBI36
NG_008806.1:g.70126C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*808C>A	ENSP00000489512.2:n.*808C>A
ENST00000673864.2:c.*1719C>A	ENSP00000501045.2:n.*1719C>A
ENST00000674147.2:c.2354C>A	ENSP00000500964.2:p.Pro785His
ENST00000242839.10:c.2975C>A MANE Select	ENSP00000242839.5:p.Pro992His
ENST00000344297.9:c.2354C>A	ENSP00000342559.5:p.Pro785His
ENST00000400366.6:c.2642C>A	ENSP00000383217.3:p.Pro881His
ENST00000448424.7:c.2723C>A	ENSP00000416738.3:p.Pro908His
ENST00000673772.1:c.2741C>A	ENSP00000501168.1:p.Pro914His
ENST00000673867.1:n.1122C>A
ENST00000674126.1:n.3338C>A
ENST00000674147.1:c.1910C>A	ENSP00000500964.1:p.Pro637His
ENST00000242839.8:c.2975C>A	ENSP00000242839.4:p.Pro992His
ENST00000344297.8:c.2354C>A	ENSP00000342559.5:p.Pro785His
ENST00000400366.5:c.2642C>A	ENSP00000383217.3:p.Pro881His
ENST00000400370.8:c.1685C>A	ENSP00000383221.3:p.Pro562His
ENST00000418097.7:c.2866-2078C>A	ENSP00000393343.2:n.2866-2078C>A
ENST00000448424.6:c.2741C>A	ENSP00000416738.2:p.Pro914His
ENST00000466629.1:n.195C>A
ENST00000634296.1:c.936C>A
ENST00000634308.1:c.*76C>A	ENSP00000489234.1:n.*76C>A
ENST00000634620.1:n.3719C>A
ENST00000634810.1:n.2320C>A
ENST00000634844.1:c.2831C>A	ENSP00000489398.1:p.Pro944His
ENST00000635406.1:n.321C>A
NM_000053.3:c.2975C>A	NP_000044.2:p.Pro992His
NM_001005918.2:c.2354C>A	NP_001005918.1:p.Pro785His
NM_001243182.1:c.2642C>A	NP_001230111.1:p.Pro881His
XM_005266423.2:c.2879C>A	XP_005266480.1:p.Pro960His
XM_005266424.3:c.2879C>A	XP_005266481.1:p.Pro960His
XM_005266427.2:c.2741C>A	XP_005266484.1:p.Pro914His
XM_005266428.1:c.2723C>A	XP_005266485.1:p.Pro908His
XM_005266430.3:c.2975C>A	XP_005266487.1:p.Pro992His
XM_005266431.2:c.2939C>A	XP_005266488.1:p.Pro980His
XM_005266432.2:c.2489C>A	XP_005266489.1:p.Pro830His
XM_006719837.2:c.2879C>A	XP_006719900.1:p.Pro960His
XM_006719838.1:c.791C>A	XP_006719901.1:p.Pro264His
XM_006719839.1:c.791C>A	XP_006719902.1:p.Pro264His
XM_011535117.1:c.2879C>A	XP_011533419.1:p.Pro960His
XM_011535118.1:c.2840C>A	XP_011533420.1:p.Pro947His
XM_011535119.1:c.2975C>A	XP_011533421.1:p.Pro992His
XM_011535120.1:c.2561C>A	XP_011533422.1:p.Pro854His
XM_011535121.1:c.2730+3638C>A	XP_011533423.1:n.2730+3638C>A
XM_011535122.1:c.1643C>A	XP_011533424.1:p.Pro548His
XR_941601.1:n.3194C>A
XR_941602.1:n.3194C>A
XR_941603.1:n.3194C>A
XR_941604.1:n.3194C>A
NM_001330578.1:c.2741C>A	NP_001317507.1:p.Pro914His
NM_001330579.1:c.2723C>A	NP_001317508.1:p.Pro908His
XM_005266424.4:c.2879C>A	XP_005266481.1:p.Pro960His
XM_005266430.4:c.2975C>A	XP_005266487.1:p.Pro992His
XM_005266431.4:c.2939C>A	XP_005266488.1:p.Pro980His
XM_006719837.3:c.2879C>A	XP_006719900.1:p.Pro960His
XM_011535117.3:c.2879C>A	XP_011533419.1:p.Pro960His
XM_017020627.1:c.2879C>A	XP_016876116.1:p.Pro960His
NM_000053.4:c.2975C>A MANE Select	NP_000044.2:p.Pro992His
NM_001005918.3:c.2354C>A	NP_001005918.1:p.Pro785His
NM_001330579.2:c.2723C>A	NP_001317508.1:p.Pro908His
NM_001243182.2:c.2642C>A	NP_001230111.1:p.Pro881His
NM_001330578.2:c.2741C>A	NP_001317507.1:p.Pro914His