Canonical Allele Identifier: CA388016617

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51950356-C-G
• MyVariant Identifiers: chr13:g.52524492C>G (hg19) ; chr13:g.51950356C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950356C>G , CM000675.2:g.51950356C>G	GRCh38
NC_000013.10:g.52524492C>G , CM000675.1:g.52524492C>G	GRCh37
NC_000013.9:g.51422493C>G	NCBI36
NG_008806.1:g.66139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*324G>C	ENSP00000489512.2:n.*324G>C
ENST00000673864.2:c.*1235G>C	ENSP00000501045.2:n.*1235G>C
ENST00000674147.2:c.2005G>C	ENSP00000500964.2:p.Val669Leu
ENST00000242839.10:c.2491G>C MANE Select	ENSP00000242839.5:p.Val831Leu
ENST00000344297.9:c.2005G>C	ENSP00000342559.5:p.Val669Leu
ENST00000400366.6:c.2158G>C	ENSP00000383217.3:p.Val720Leu
ENST00000448424.7:c.2239G>C	ENSP00000416738.3:p.Val747Leu
ENST00000673772.1:c.2257G>C	ENSP00000501168.1:p.Val753Leu
ENST00000674147.1:c.1561G>C	ENSP00000500964.1:p.Val521Leu
ENST00000242839.8:c.2491G>C	ENSP00000242839.4:p.Val831Leu
ENST00000344297.8:c.2005G>C	ENSP00000342559.5:p.Val669Leu
ENST00000400366.5:c.2158G>C	ENSP00000383217.3:p.Val720Leu
ENST00000400370.8:c.1286-195G>C	ENSP00000383221.3:n.1286-195G>C
ENST00000418097.7:c.2491G>C	ENSP00000393343.2:p.Val831Leu
ENST00000448424.6:c.2257G>C	ENSP00000416738.2:p.Val753Leu
ENST00000634296.1:c.452G>C
ENST00000634308.1:c.2257G>C	ENSP00000489234.1:p.Val753Leu
ENST00000634620.1:n.3289G>C
ENST00000634810.1:n.1836G>C
ENST00000634844.1:c.2347G>C	ENSP00000489398.1:p.Val783Leu
ENST00000635406.1:n.212-3878G>C
NM_000053.3:c.2491G>C	NP_000044.2:p.Val831Leu
NM_001005918.2:c.2005G>C	NP_001005918.1:p.Val669Leu
NM_001243182.1:c.2158G>C	NP_001230111.1:p.Val720Leu
XM_005266423.2:c.2395G>C	XP_005266480.1:p.Val799Leu
XM_005266424.3:c.2395G>C	XP_005266481.1:p.Val799Leu
XM_005266427.2:c.2257G>C	XP_005266484.1:p.Val753Leu
XM_005266428.1:c.2239G>C	XP_005266485.1:p.Val747Leu
XM_005266430.3:c.2491G>C	XP_005266487.1:p.Val831Leu
XM_005266431.2:c.2455G>C	XP_005266488.1:p.Val819Leu
XM_005266432.2:c.2005G>C	XP_005266489.1:p.Val669Leu
XM_006719837.2:c.2395G>C	XP_006719900.1:p.Val799Leu
XM_006719838.1:c.307G>C	XP_006719901.1:p.Val103Leu
XM_006719839.1:c.307G>C	XP_006719902.1:p.Val103Leu
XM_011535117.1:c.2395G>C	XP_011533419.1:p.Val799Leu
XM_011535118.1:c.2491G>C	XP_011533420.1:p.Val831Leu
XM_011535119.1:c.2491G>C	XP_011533421.1:p.Val831Leu
XM_011535120.1:c.2077G>C	XP_011533422.1:p.Val693Leu
XM_011535121.1:c.2491G>C	XP_011533423.1:p.Val831Leu
XM_011535122.1:c.1159G>C	XP_011533424.1:p.Val387Leu
XR_941601.1:n.2710G>C
XR_941602.1:n.2710G>C
XR_941603.1:n.2710G>C
XR_941604.1:n.2710G>C
NM_001330578.1:c.2257G>C	NP_001317507.1:p.Val753Leu
NM_001330579.1:c.2239G>C	NP_001317508.1:p.Val747Leu
XM_005266424.4:c.2395G>C	XP_005266481.1:p.Val799Leu
XM_005266430.4:c.2491G>C	XP_005266487.1:p.Val831Leu
XM_005266431.4:c.2455G>C	XP_005266488.1:p.Val819Leu
XM_006719837.3:c.2395G>C	XP_006719900.1:p.Val799Leu
XM_011535117.3:c.2395G>C	XP_011533419.1:p.Val799Leu
XM_017020627.1:c.2395G>C	XP_016876116.1:p.Val799Leu
NM_000053.4:c.2491G>C MANE Select	NP_000044.2:p.Val831Leu
NM_001005918.3:c.2005G>C	NP_001005918.1:p.Val669Leu
NM_001330579.2:c.2239G>C	NP_001317508.1:p.Val747Leu
NM_001243182.2:c.2158G>C	NP_001230111.1:p.Val720Leu
NM_001330578.2:c.2257G>C	NP_001317507.1:p.Val753Leu