Canonical Allele Identifier: CA6988778

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1528153
• ClinVar RCV Id: RCV002077425
• dbSNP Id: rs376112375
• ExAC: 13:52518271 C / T
• gnomAD v2: 13-52518271-C-T
• gnomAD v3: 13-51944135-C-T
• gnomAD v4: 13-51944135-C-T
• MyVariant Identifiers: chr13:g.52518271C>T (hg19) ; chr13:g.51944135C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944135C>T , CM000675.2:g.51944135C>T	GRCh38
NC_000013.10:g.52518271C>T , CM000675.1:g.52518271C>T	GRCh37
NC_000013.9:g.51416272C>T	NCBI36
NG_008806.1:g.72360G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1581G>A	ENSP00000489512.2:n.*894-1581G>A
ENST00000673864.2:c.*1961G>A	ENSP00000501045.2:n.*1961G>A
ENST00000674147.2:c.2596G>A	ENSP00000500964.2:p.Val866Met
ENST00000242839.10:c.3217G>A MANE Select	ENSP00000242839.5:p.Val1073Met
ENST00000344297.9:c.2596G>A	ENSP00000342559.5:p.Val866Met
ENST00000400366.6:c.2884G>A	ENSP00000383217.3:p.Val962Met
ENST00000448424.7:c.2965G>A	ENSP00000416738.3:p.Val989Met
ENST00000673772.1:c.2983G>A	ENSP00000501168.1:p.Val995Met
ENST00000673867.1:n.3356G>A
ENST00000674126.1:n.3580G>A
ENST00000674147.1:c.2152G>A	ENSP00000500964.1:p.Val718Met
ENST00000242839.8:c.3217G>A	ENSP00000242839.4:p.Val1073Met
ENST00000344297.8:c.2596G>A	ENSP00000342559.5:p.Val866Met
ENST00000400366.5:c.2884G>A	ENSP00000383217.3:p.Val962Met
ENST00000400370.8:c.1927G>A	ENSP00000383221.3:p.Val643Met
ENST00000418097.7:c.3022G>A	ENSP00000393343.2:p.Val1008Met
ENST00000448424.6:c.2983G>A	ENSP00000416738.2:p.Val995Met
ENST00000466629.1:n.437G>A
ENST00000634296.1:c.1022-1581G>A
ENST00000634308.1:c.*318G>A	ENSP00000489234.1:n.*318G>A
ENST00000634620.1:n.3961G>A
ENST00000634810.1:n.2562G>A
ENST00000634844.1:c.3073G>A	ENSP00000489398.1:p.Val1025Met
NM_000053.3:c.3217G>A	NP_000044.2:p.Val1073Met
NM_001005918.2:c.2596G>A	NP_001005918.1:p.Val866Met
NM_001243182.1:c.2884G>A	NP_001230111.1:p.Val962Met
XM_005266423.2:c.3121G>A	XP_005266480.1:p.Val1041Met
XM_005266424.3:c.3121G>A	XP_005266481.1:p.Val1041Met
XM_005266427.2:c.2983G>A	XP_005266484.1:p.Val995Met
XM_005266428.1:c.2965G>A	XP_005266485.1:p.Val989Met
XM_005266430.3:c.3217G>A	XP_005266487.1:p.Val1073Met
XM_005266431.2:c.3181G>A	XP_005266488.1:p.Val1061Met
XM_005266432.2:c.2731G>A	XP_005266489.1:p.Val911Met
XM_006719837.2:c.3121G>A	XP_006719900.1:p.Val1041Met
XM_006719838.1:c.1033G>A	XP_006719901.1:p.Val345Met
XM_006719839.1:c.877-1581G>A	XP_006719902.1:n.877-1581G>A
XM_011535117.1:c.3121G>A	XP_011533419.1:p.Val1041Met
XM_011535118.1:c.3082G>A	XP_011533420.1:p.Val1028Met
XM_011535119.1:c.3061-1581G>A	XP_011533421.1:n.3061-1581G>A
XM_011535120.1:c.2803G>A	XP_011533422.1:p.Val935Met
XM_011535121.1:c.2731-1581G>A	XP_011533423.1:n.2731-1581G>A
XM_011535122.1:c.1885G>A	XP_011533424.1:p.Val629Met
XR_941601.1:n.3436G>A
XR_941602.1:n.3436G>A
XR_941603.1:n.3436G>A
XR_941604.1:n.3436G>A
NM_001330578.1:c.2983G>A	NP_001317507.1:p.Val995Met
NM_001330579.1:c.2965G>A	NP_001317508.1:p.Val989Met
XM_005266424.4:c.3121G>A	XP_005266481.1:p.Val1041Met
XM_005266430.4:c.3217G>A	XP_005266487.1:p.Val1073Met
XM_005266431.4:c.3181G>A	XP_005266488.1:p.Val1061Met
XM_006719837.3:c.3121G>A	XP_006719900.1:p.Val1041Met
XM_011535117.3:c.3121G>A	XP_011533419.1:p.Val1041Met
XM_017020627.1:c.3121G>A	XP_016876116.1:p.Val1041Met
NM_000053.4:c.3217G>A MANE Select	NP_000044.2:p.Val1073Met
NM_001005918.3:c.2596G>A	NP_001005918.1:p.Val866Met
NM_001330579.2:c.2965G>A	NP_001317508.1:p.Val989Met
NM_001243182.2:c.2884G>A	NP_001230111.1:p.Val962Met
NM_001330578.2:c.2983G>A	NP_001317507.1:p.Val995Met