Canonical Allele Identifier: CA388028728

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 456556
• ClinVar RCV Id: RCV000548917 ; RCV003480668
• dbSNP Id: rs1555285891
• gnomAD v4: 13-51942514-T-G
• MyVariant Identifiers: chr13:g.52516650T>G (hg19) ; chr13:g.51942514T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51942514T>G , CM000675.2:g.51942514T>G	GRCh38
NC_000013.10:g.52516650T>G , CM000675.1:g.52516650T>G	GRCh37
NC_000013.9:g.51414651T>G	NCBI36
NG_008806.1:g.73981A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*934A>C	ENSP00000489512.2:n.*934A>C
ENST00000673864.2:c.*2028A>C	ENSP00000501045.2:n.*2028A>C
ENST00000674147.2:c.2663A>C	ENSP00000500964.2:p.Gln888Pro
ENST00000242839.10:c.3284A>C MANE Select	ENSP00000242839.5:p.Gln1095Pro
ENST00000344297.9:c.2663A>C	ENSP00000342559.5:p.Gln888Pro
ENST00000400366.6:c.2951A>C	ENSP00000383217.3:p.Gln984Pro
ENST00000448424.7:c.3032A>C	ENSP00000416738.3:p.Gln1011Pro
ENST00000673772.1:c.3050A>C	ENSP00000501168.1:p.Gln1017Pro
ENST00000673867.1:n.3423A>C
ENST00000674126.1:n.3647A>C
ENST00000674147.1:c.2219A>C	ENSP00000500964.1:p.Gln740Pro
ENST00000242839.8:c.3284A>C	ENSP00000242839.4:p.Gln1095Pro
ENST00000344297.8:c.2663A>C	ENSP00000342559.5:p.Gln888Pro
ENST00000400366.5:c.2951A>C	ENSP00000383217.3:p.Gln984Pro
ENST00000400370.8:c.1994A>C	ENSP00000383221.3:p.Gln665Pro
ENST00000418097.7:c.3089A>C	ENSP00000393343.2:p.Gln1030Pro
ENST00000448424.6:c.3050A>C	ENSP00000416738.2:p.Gln1017Pro
ENST00000634296.1:c.1062A>C
ENST00000634308.1:c.*385A>C	ENSP00000489234.1:n.*385A>C
ENST00000634620.1:n.4028A>C
ENST00000634810.1:n.2629A>C
ENST00000634844.1:c.3140A>C	ENSP00000489398.1:p.Gln1047Pro
NM_000053.3:c.3284A>C	NP_000044.2:p.Gln1095Pro
NM_001005918.2:c.2663A>C	NP_001005918.1:p.Gln888Pro
NM_001243182.1:c.2951A>C	NP_001230111.1:p.Gln984Pro
XM_005266423.2:c.3188A>C	XP_005266480.1:p.Gln1063Pro
XM_005266424.3:c.3188A>C	XP_005266481.1:p.Gln1063Pro
XM_005266427.2:c.3050A>C	XP_005266484.1:p.Gln1017Pro
XM_005266428.1:c.3032A>C	XP_005266485.1:p.Gln1011Pro
XM_005266430.3:c.3284A>C	XP_005266487.1:p.Gln1095Pro
XM_005266431.2:c.3248A>C	XP_005266488.1:p.Gln1083Pro
XM_005266432.2:c.2798A>C	XP_005266489.1:p.Gln933Pro
XM_006719837.2:c.3188A>C	XP_006719900.1:p.Gln1063Pro
XM_006719838.1:c.1100A>C	XP_006719901.1:p.Gln367Pro
XM_006719839.1:c.917A>C	XP_006719902.1:p.Gln306Pro
XM_011535117.1:c.3188A>C	XP_011533419.1:p.Gln1063Pro
XM_011535118.1:c.3149A>C	XP_011533420.1:p.Gln1050Pro
XM_011535119.1:c.3101A>C	XP_011533421.1:p.Gln1034Pro
XM_011535120.1:c.2870A>C	XP_011533422.1:p.Gln957Pro
XM_011535121.1:c.2771A>C	XP_011533423.1:p.Gln924Pro
XM_011535122.1:c.1952A>C	XP_011533424.1:p.Gln651Pro
XR_941601.1:n.3503A>C
XR_941602.1:n.3503A>C
XR_941603.1:n.3503A>C
XR_941604.1:n.3503A>C
NM_001330578.1:c.3050A>C	NP_001317507.1:p.Gln1017Pro
NM_001330579.1:c.3032A>C	NP_001317508.1:p.Gln1011Pro
XM_005266424.4:c.3188A>C	XP_005266481.1:p.Gln1063Pro
XM_005266430.4:c.3284A>C	XP_005266487.1:p.Gln1095Pro
XM_005266431.4:c.3248A>C	XP_005266488.1:p.Gln1083Pro
XM_006719837.3:c.3188A>C	XP_006719900.1:p.Gln1063Pro
XM_011535117.3:c.3188A>C	XP_011533419.1:p.Gln1063Pro
XM_017020627.1:c.3188A>C	XP_016876116.1:p.Gln1063Pro
NM_000053.4:c.3284A>C MANE Select	NP_000044.2:p.Gln1095Pro
NM_001005918.3:c.2663A>C	NP_001005918.1:p.Gln888Pro
NM_001330579.2:c.3032A>C	NP_001317508.1:p.Gln1011Pro
NM_001243182.2:c.2951A>C	NP_001230111.1:p.Gln984Pro
NM_001330578.2:c.3050A>C	NP_001317507.1:p.Gln1017Pro