Canonical Allele Identifier: CA388029740

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 659418
• ClinVar RCV Id: RCV000816422
• dbSNP Id: rs1593671769
• gnomAD v4: 13-51944107-A-G
• MyVariant Identifiers: chr13:g.52518243A>G (hg19) ; chr13:g.51944107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944107A>G , CM000675.2:g.51944107A>G	GRCh38
NC_000013.10:g.52518243A>G , CM000675.1:g.52518243A>G	GRCh37
NC_000013.9:g.51416244A>G	NCBI36
NG_008806.1:g.72388T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1553T>C	ENSP00000489512.2:n.*894-1553T>C
ENST00000673864.2:c.*1987+2T>C	ENSP00000501045.2:n.*1987+2T>C
ENST00000674147.2:c.2622+2T>C	ENSP00000500964.2:n.2622+2T>C
ENST00000242839.10:c.3243+2T>C MANE Select	ENSP00000242839.5:n.3243+2T>C
ENST00000344297.9:c.2622+2T>C	ENSP00000342559.5:n.2622+2T>C
ENST00000400366.6:c.2910+2T>C	ENSP00000383217.3:n.2910+2T>C
ENST00000448424.7:c.2991+2T>C	ENSP00000416738.3:n.2991+2T>C
ENST00000673772.1:c.3009+2T>C	ENSP00000501168.1:n.3009+2T>C
ENST00000673867.1:n.3382+2T>C
ENST00000674126.1:n.3606+2T>C
ENST00000674147.1:c.2178+2T>C	ENSP00000500964.1:n.2178+2T>C
ENST00000242839.8:c.3243+2T>C	ENSP00000242839.4:n.3243+2T>C
ENST00000344297.8:c.2622+2T>C	ENSP00000342559.5:n.2622+2T>C
ENST00000400366.5:c.2910+2T>C	ENSP00000383217.3:n.2910+2T>C
ENST00000400370.8:c.1953+2T>C	ENSP00000383221.3:n.1953+2T>C
ENST00000418097.7:c.3048+2T>C	ENSP00000393343.2:n.3048+2T>C
ENST00000448424.6:c.3009+2T>C	ENSP00000416738.2:n.3009+2T>C
ENST00000634296.1:c.1022-1553T>C
ENST00000634308.1:c.*344+2T>C	ENSP00000489234.1:n.*344+2T>C
ENST00000634620.1:n.3987+2T>C
ENST00000634810.1:n.2588+2T>C
ENST00000634844.1:c.3099+2T>C	ENSP00000489398.1:n.3099+2T>C
NM_000053.3:c.3243+2T>C	NP_000044.2:n.3243+2T>C
NM_001005918.2:c.2622+2T>C	NP_001005918.1:n.2622+2T>C
NM_001243182.1:c.2910+2T>C	NP_001230111.1:n.2910+2T>C
XM_005266423.2:c.3147+2T>C	XP_005266480.1:n.3147+2T>C
XM_005266424.3:c.3147+2T>C	XP_005266481.1:n.3147+2T>C
XM_005266427.2:c.3009+2T>C	XP_005266484.1:n.3009+2T>C
XM_005266428.1:c.2991+2T>C	XP_005266485.1:n.2991+2T>C
XM_005266430.3:c.3243+2T>C	XP_005266487.1:n.3243+2T>C
XM_005266431.2:c.3207+2T>C	XP_005266488.1:n.3207+2T>C
XM_005266432.2:c.2757+2T>C	XP_005266489.1:n.2757+2T>C
XM_006719837.2:c.3147+2T>C	XP_006719900.1:n.3147+2T>C
XM_006719838.1:c.1059+2T>C	XP_006719901.1:n.1059+2T>C
XM_006719839.1:c.877-1553T>C	XP_006719902.1:n.877-1553T>C
XM_011535117.1:c.3147+2T>C	XP_011533419.1:n.3147+2T>C
XM_011535118.1:c.3108+2T>C	XP_011533420.1:n.3108+2T>C
XM_011535119.1:c.3061-1553T>C	XP_011533421.1:n.3061-1553T>C
XM_011535120.1:c.2829+2T>C	XP_011533422.1:n.2829+2T>C
XM_011535121.1:c.2731-1553T>C	XP_011533423.1:n.2731-1553T>C
XM_011535122.1:c.1911+2T>C	XP_011533424.1:n.1911+2T>C
XR_941601.1:n.3462+2T>C
XR_941602.1:n.3462+2T>C
XR_941603.1:n.3462+2T>C
XR_941604.1:n.3462+2T>C
NM_001330578.1:c.3009+2T>C	NP_001317507.1:n.3009+2T>C
NM_001330579.1:c.2991+2T>C	NP_001317508.1:n.2991+2T>C
XM_005266424.4:c.3147+2T>C	XP_005266481.1:n.3147+2T>C
XM_005266430.4:c.3243+2T>C	XP_005266487.1:n.3243+2T>C
XM_005266431.4:c.3207+2T>C	XP_005266488.1:n.3207+2T>C
XM_006719837.3:c.3147+2T>C	XP_006719900.1:n.3147+2T>C
XM_011535117.3:c.3147+2T>C	XP_011533419.1:n.3147+2T>C
XM_017020627.1:c.3147+2T>C	XP_016876116.1:n.3147+2T>C
NM_000053.4:c.3243+2T>C MANE Select	NP_000044.2:n.3243+2T>C
NM_001005918.3:c.2622+2T>C	NP_001005918.1:n.2622+2T>C
NM_001330579.2:c.2991+2T>C	NP_001317508.1:n.2991+2T>C
NM_001243182.2:c.2910+2T>C	NP_001230111.1:n.2910+2T>C
NM_001330578.2:c.3009+2T>C	NP_001317507.1:n.3009+2T>C