Canonical Allele Identifier: CA388026586

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3075591
• ClinVar RCV Id: RCV004017109
• gnomAD v4: 13-51941180-A-C
• MyVariant Identifiers: chr13:g.52515316A>C (hg19) ; chr13:g.51941180A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941180A>C , CM000675.2:g.51941180A>C	GRCh38
NC_000013.10:g.52515316A>C , CM000675.1:g.52515316A>C	GRCh37
NC_000013.9:g.51413317A>C	NCBI36
NG_008806.1:g.75315T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1107T>G	ENSP00000489512.2:n.*1107T>G
ENST00000673864.2:c.*2201T>G	ENSP00000501045.2:n.*2201T>G
ENST00000674147.2:c.2836T>G	ENSP00000500964.2:p.Trp946Gly
ENST00000242839.10:c.3457T>G MANE Select	ENSP00000242839.5:p.Trp1153Gly
ENST00000344297.9:c.2836T>G	ENSP00000342559.5:p.Trp946Gly
ENST00000400366.6:c.3124T>G	ENSP00000383217.3:p.Trp1042Gly
ENST00000448424.7:c.3205T>G	ENSP00000416738.3:p.Trp1069Gly
ENST00000673772.1:c.3223T>G	ENSP00000501168.1:p.Trp1075Gly
ENST00000673867.1:n.3596T>G
ENST00000674126.1:n.3820T>G
ENST00000674147.1:c.2392T>G	ENSP00000500964.1:p.Trp798Gly
ENST00000242839.8:c.3457T>G	ENSP00000242839.4:p.Trp1153Gly
ENST00000344297.8:c.2836T>G	ENSP00000342559.5:p.Trp946Gly
ENST00000400366.5:c.3124T>G	ENSP00000383217.3:p.Trp1042Gly
ENST00000400370.8:c.2167T>G	ENSP00000383221.3:p.Trp723Gly
ENST00000418097.7:c.3262T>G	ENSP00000393343.2:p.Trp1088Gly
ENST00000448424.6:c.3223T>G	ENSP00000416738.2:p.Trp1075Gly
ENST00000634296.1:c.1235T>G
ENST00000634308.1:c.*558T>G	ENSP00000489234.1:n.*558T>G
ENST00000634620.1:n.4201T>G
ENST00000634810.1:n.2802T>G
ENST00000634844.1:c.3313T>G	ENSP00000489398.1:p.Trp1105Gly
NM_000053.3:c.3457T>G	NP_000044.2:p.Trp1153Gly
NM_001005918.2:c.2836T>G	NP_001005918.1:p.Trp946Gly
NM_001243182.1:c.3124T>G	NP_001230111.1:p.Trp1042Gly
XM_005266423.2:c.3361T>G	XP_005266480.1:p.Trp1121Gly
XM_005266424.3:c.3361T>G	XP_005266481.1:p.Trp1121Gly
XM_005266427.2:c.3223T>G	XP_005266484.1:p.Trp1075Gly
XM_005266428.1:c.3205T>G	XP_005266485.1:p.Trp1069Gly
XM_005266430.3:c.3457T>G	XP_005266487.1:p.Trp1153Gly
XM_005266431.2:c.3421T>G	XP_005266488.1:p.Trp1141Gly
XM_005266432.2:c.2971T>G	XP_005266489.1:p.Trp991Gly
XM_006719837.2:c.3361T>G	XP_006719900.1:p.Trp1121Gly
XM_006719838.1:c.1273T>G	XP_006719901.1:p.Trp425Gly
XM_006719839.1:c.1090T>G	XP_006719902.1:p.Trp364Gly
XM_011535117.1:c.3361T>G	XP_011533419.1:p.Trp1121Gly
XM_011535118.1:c.3322T>G	XP_011533420.1:p.Trp1108Gly
XM_011535119.1:c.3274T>G	XP_011533421.1:p.Trp1092Gly
XM_011535120.1:c.3043T>G	XP_011533422.1:p.Trp1015Gly
XM_011535121.1:c.2944T>G	XP_011533423.1:p.Trp982Gly
XM_011535122.1:c.2125T>G	XP_011533424.1:p.Trp709Gly
XR_941601.1:n.3676T>G
XR_941602.1:n.3676T>G
XR_941603.1:n.3676T>G
XR_941604.1:n.3676T>G
NM_001330578.1:c.3223T>G	NP_001317507.1:p.Trp1075Gly
NM_001330579.1:c.3205T>G	NP_001317508.1:p.Trp1069Gly
XM_005266424.4:c.3361T>G	XP_005266481.1:p.Trp1121Gly
XM_005266430.4:c.3457T>G	XP_005266487.1:p.Trp1153Gly
XM_005266431.4:c.3421T>G	XP_005266488.1:p.Trp1141Gly
XM_006719837.3:c.3361T>G	XP_006719900.1:p.Trp1121Gly
XM_011535117.3:c.3361T>G	XP_011533419.1:p.Trp1121Gly
XM_017020627.1:c.3361T>G	XP_016876116.1:p.Trp1121Gly
NM_000053.4:c.3457T>G MANE Select	NP_000044.2:p.Trp1153Gly
NM_001005918.3:c.2836T>G	NP_001005918.1:p.Trp946Gly
NM_001330579.2:c.3205T>G	NP_001317508.1:p.Trp1069Gly
NM_001243182.2:c.3124T>G	NP_001230111.1:p.Trp1042Gly
NM_001330578.2:c.3223T>G	NP_001317507.1:p.Trp1075Gly