Canonical Allele Identifier: CA388024301

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51939143-C-G
• MyVariant Identifiers: chr13:g.52513279C>G (hg19) ; chr13:g.51939143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939143C>G , CM000675.2:g.51939143C>G	GRCh38
NC_000013.10:g.52513279C>G , CM000675.1:g.52513279C>G	GRCh37
NC_000013.9:g.51411280C>G	NCBI36
NG_008806.1:g.77352G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1257G>C	ENSP00000489512.2:n.*1257G>C
ENST00000673864.2:c.*2351G>C	ENSP00000501045.2:n.*2351G>C
ENST00000674147.2:c.2986G>C	ENSP00000500964.2:p.Ala996Pro
ENST00000242839.10:c.3607G>C MANE Select	ENSP00000242839.5:p.Ala1203Pro
ENST00000344297.9:c.2986G>C	ENSP00000342559.5:p.Ala996Pro
ENST00000400366.6:c.3274G>C	ENSP00000383217.3:p.Ala1092Pro
ENST00000448424.7:c.3355G>C	ENSP00000416738.3:p.Ala1119Pro
ENST00000673696.1:n.848G>C
ENST00000673772.1:c.3373G>C	ENSP00000501168.1:p.Ala1125Pro
ENST00000673867.1:n.3746G>C
ENST00000673923.1:n.473G>C
ENST00000674147.1:c.2542G>C	ENSP00000500964.1:p.Ala848Pro
ENST00000242839.8:c.3607G>C	ENSP00000242839.4:p.Ala1203Pro
ENST00000344297.8:c.2986G>C	ENSP00000342559.5:p.Ala996Pro
ENST00000400366.5:c.3274G>C	ENSP00000383217.3:p.Ala1092Pro
ENST00000400370.8:c.2317G>C	ENSP00000383221.3:p.Ala773Pro
ENST00000418097.7:c.3412G>C	ENSP00000393343.2:p.Ala1138Pro
ENST00000448424.6:c.3373G>C	ENSP00000416738.2:p.Ala1125Pro
ENST00000634296.1:c.1385G>C
ENST00000634308.1:c.*708G>C	ENSP00000489234.1:n.*708G>C
ENST00000634620.1:n.4351G>C
ENST00000634810.1:n.2952G>C
ENST00000634844.1:c.3463G>C	ENSP00000489398.1:p.Ala1155Pro
NM_000053.3:c.3607G>C	NP_000044.2:p.Ala1203Pro
NM_001005918.2:c.2986G>C	NP_001005918.1:p.Ala996Pro
NM_001243182.1:c.3274G>C	NP_001230111.1:p.Ala1092Pro
XM_005266423.2:c.3511G>C	XP_005266480.1:p.Ala1171Pro
XM_005266424.3:c.3511G>C	XP_005266481.1:p.Ala1171Pro
XM_005266427.2:c.3373G>C	XP_005266484.1:p.Ala1125Pro
XM_005266428.1:c.3355G>C	XP_005266485.1:p.Ala1119Pro
XM_005266430.3:c.3607G>C	XP_005266487.1:p.Ala1203Pro
XM_005266431.2:c.3571G>C	XP_005266488.1:p.Ala1191Pro
XM_005266432.2:c.3121G>C	XP_005266489.1:p.Ala1041Pro
XM_006719837.2:c.3511G>C	XP_006719900.1:p.Ala1171Pro
XM_006719838.1:c.1423G>C	XP_006719901.1:p.Ala475Pro
XM_006719839.1:c.1240G>C	XP_006719902.1:p.Ala414Pro
XM_011535117.1:c.3511G>C	XP_011533419.1:p.Ala1171Pro
XM_011535118.1:c.3472G>C	XP_011533420.1:p.Ala1158Pro
XM_011535119.1:c.3424G>C	XP_011533421.1:p.Ala1142Pro
XM_011535120.1:c.3193G>C	XP_011533422.1:p.Ala1065Pro
XM_011535121.1:c.3094G>C	XP_011533423.1:p.Ala1032Pro
XM_011535122.1:c.2275G>C	XP_011533424.1:p.Ala759Pro
XR_941601.1:n.3826G>C
XR_941602.1:n.3826G>C
XR_941603.1:n.3826G>C
XR_941604.1:n.3826G>C
NM_001330578.1:c.3373G>C	NP_001317507.1:p.Ala1125Pro
NM_001330579.1:c.3355G>C	NP_001317508.1:p.Ala1119Pro
XM_005266424.4:c.3511G>C	XP_005266481.1:p.Ala1171Pro
XM_005266430.4:c.3607G>C	XP_005266487.1:p.Ala1203Pro
XM_005266431.4:c.3571G>C	XP_005266488.1:p.Ala1191Pro
XM_006719837.3:c.3511G>C	XP_006719900.1:p.Ala1171Pro
XM_011535117.3:c.3511G>C	XP_011533419.1:p.Ala1171Pro
XM_017020627.1:c.3511G>C	XP_016876116.1:p.Ala1171Pro
NM_000053.4:c.3607G>C MANE Select	NP_000044.2:p.Ala1203Pro
NM_001005918.3:c.2986G>C	NP_001005918.1:p.Ala996Pro
NM_001330579.2:c.3355G>C	NP_001317508.1:p.Ala1119Pro
NM_001243182.2:c.3274G>C	NP_001230111.1:p.Ala1092Pro
NM_001330578.2:c.3373G>C	NP_001317507.1:p.Ala1125Pro