Canonical Allele Identifier: CA6988416

Gene: ATP7B

Linked Data

• dbSNP Id: rs766141109
• ExAC: 13:52508953 T / C
• gnomAD v2: 13-52508953-T-C
• gnomAD v4: 13-51934817-T-C
• MyVariant Identifiers: chr13:g.52508953T>C (hg19) ; chr13:g.51934817T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51934817T>C , CM000675.2:g.51934817T>C	GRCh38
NC_000013.10:g.52508953T>C , CM000675.1:g.52508953T>C	GRCh37
NC_000013.9:g.51406954T>C	NCBI36
NG_008806.1:g.81678A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1987A>G	ENSP00000489512.2:n.*1987A>G
ENST00000673864.2:c.*3081A>G	ENSP00000501045.2:n.*3081A>G
ENST00000674147.2:c.3716A>G	ENSP00000500964.2:p.Asp1239Gly
ENST00000242839.10:c.4337A>G MANE Select	ENSP00000242839.5:p.Asp1446Gly
ENST00000344297.9:c.3716A>G	ENSP00000342559.5:p.Asp1239Gly
ENST00000400366.6:c.4004A>G	ENSP00000383217.3:p.Asp1335Gly
ENST00000448424.7:c.4085A>G	ENSP00000416738.3:p.Asp1362Gly
ENST00000673696.1:n.1660A>G
ENST00000673772.1:c.4103A>G	ENSP00000501168.1:p.Asp1368Gly
ENST00000673867.1:n.4476A>G
ENST00000673923.1:n.1203A>G
ENST00000674147.1:c.3272A>G	ENSP00000500964.1:p.Asp1091Gly
ENST00000242839.8:c.4337A>G	ENSP00000242839.4:p.Asp1446Gly
ENST00000344297.8:c.3716A>G	ENSP00000342559.5:p.Asp1239Gly
ENST00000400366.5:c.4004A>G	ENSP00000383217.3:p.Asp1335Gly
ENST00000400370.8:c.3047A>G	ENSP00000383221.3:p.Asp1016Gly
ENST00000418097.7:c.4142A>G	ENSP00000393343.2:p.Asp1381Gly
ENST00000448424.6:c.4103A>G	ENSP00000416738.2:p.Asp1368Gly
ENST00000634296.1:c.2115A>G
ENST00000634308.1:c.*1438A>G	ENSP00000489234.1:n.*1438A>G
ENST00000634620.1:n.5081A>G
ENST00000634810.1:n.3682A>G
ENST00000634844.1:c.4193A>G	ENSP00000489398.1:p.Asp1398Gly
NM_000053.3:c.4337A>G	NP_000044.2:p.Asp1446Gly
NM_001005918.2:c.3716A>G	NP_001005918.1:p.Asp1239Gly
NM_001243182.1:c.4004A>G	NP_001230111.1:p.Asp1335Gly
XM_005266423.2:c.4241A>G	XP_005266480.1:p.Asp1414Gly
XM_005266424.3:c.4241A>G	XP_005266481.1:p.Asp1414Gly
XM_005266427.2:c.4103A>G	XP_005266484.1:p.Asp1368Gly
XM_005266428.1:c.4085A>G	XP_005266485.1:p.Asp1362Gly
XM_005266430.3:c.4337A>G	XP_005266487.1:p.Asp1446Gly
XM_005266431.2:c.4301A>G	XP_005266488.1:p.Asp1434Gly
XM_005266432.2:c.3851A>G	XP_005266489.1:p.Asp1284Gly
XM_006719837.2:c.4241A>G	XP_006719900.1:p.Asp1414Gly
XM_006719838.1:c.2153A>G	XP_006719901.1:p.Asp718Gly
XM_006719839.1:c.1970A>G	XP_006719902.1:p.Asp657Gly
XM_011535117.1:c.4241A>G	XP_011533419.1:p.Asp1414Gly
XM_011535118.1:c.4202A>G	XP_011533420.1:p.Asp1401Gly
XM_011535119.1:c.4154A>G	XP_011533421.1:p.Asp1385Gly
XM_011535120.1:c.3923A>G	XP_011533422.1:p.Asp1308Gly
XM_011535121.1:c.3824A>G	XP_011533423.1:p.Asp1275Gly
XM_011535122.1:c.3005A>G	XP_011533424.1:p.Asp1002Gly
XR_941601.1:n.4556A>G
XR_941602.1:n.4556A>G
XR_941603.1:n.4556A>G
XR_941604.1:n.4556A>G
NM_001330578.1:c.4103A>G	NP_001317507.1:p.Asp1368Gly
NM_001330579.1:c.4085A>G	NP_001317508.1:p.Asp1362Gly
XM_005266424.4:c.4241A>G	XP_005266481.1:p.Asp1414Gly
XM_005266430.4:c.4337A>G	XP_005266487.1:p.Asp1446Gly
XM_005266431.4:c.4301A>G	XP_005266488.1:p.Asp1434Gly
XM_006719837.3:c.4241A>G	XP_006719900.1:p.Asp1414Gly
XM_011535117.3:c.4241A>G	XP_011533419.1:p.Asp1414Gly
XM_017020627.1:c.4241A>G	XP_016876116.1:p.Asp1414Gly
NM_000053.4:c.4337A>G MANE Select	NP_000044.2:p.Asp1446Gly
NM_001005918.3:c.3716A>G	NP_001005918.1:p.Asp1239Gly
NM_001330579.2:c.4085A>G	NP_001317508.1:p.Asp1362Gly
NM_001243182.2:c.4004A>G	NP_001230111.1:p.Asp1335Gly
NM_001330578.2:c.4103A>G	NP_001317507.1:p.Asp1368Gly