Canonical Allele Identifier: CA6988623

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 697841
• ClinVar RCV Id: RCV000864924
• dbSNP Id: rs754144261
• ExAC: 13:52513268 C / T
• gnomAD v2: 13-52513268-C-T
• gnomAD v3: 13-51939132-C-T
• gnomAD v4: 13-51939132-C-T
• MyVariant Identifiers: chr13:g.52513268C>T (hg19) ; chr13:g.51939132C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939132C>T , CM000675.2:g.51939132C>T	GRCh38
NC_000013.10:g.52513268C>T , CM000675.1:g.52513268C>T	GRCh37
NC_000013.9:g.51411269C>T	NCBI36
NG_008806.1:g.77363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1268G>A	ENSP00000489512.2:n.*1268G>A
ENST00000673864.2:c.*2362G>A	ENSP00000501045.2:n.*2362G>A
ENST00000674147.2:c.2997G>A	ENSP00000500964.2:p.Val999=
ENST00000242839.10:c.3618G>A MANE Select	ENSP00000242839.5:p.Val1206=
ENST00000344297.9:c.2997G>A	ENSP00000342559.5:p.Val999=
ENST00000400366.6:c.3285G>A	ENSP00000383217.3:p.Val1095=
ENST00000448424.7:c.3366G>A	ENSP00000416738.3:p.Val1122=
ENST00000673696.1:n.859G>A
ENST00000673772.1:c.3384G>A	ENSP00000501168.1:p.Val1128=
ENST00000673867.1:n.3757G>A
ENST00000673923.1:n.484G>A
ENST00000674147.1:c.2553G>A	ENSP00000500964.1:p.Val851=
ENST00000242839.8:c.3618G>A	ENSP00000242839.4:p.Val1206=
ENST00000344297.8:c.2997G>A	ENSP00000342559.5:p.Val999=
ENST00000400366.5:c.3285G>A	ENSP00000383217.3:p.Val1095=
ENST00000400370.8:c.2328G>A	ENSP00000383221.3:p.Val776=
ENST00000418097.7:c.3423G>A	ENSP00000393343.2:p.Val1141=
ENST00000448424.6:c.3384G>A	ENSP00000416738.2:p.Val1128=
ENST00000634296.1:c.1396G>A
ENST00000634308.1:c.*719G>A	ENSP00000489234.1:n.*719G>A
ENST00000634620.1:n.4362G>A
ENST00000634810.1:n.2963G>A
ENST00000634844.1:c.3474G>A	ENSP00000489398.1:p.Val1158=
NM_000053.3:c.3618G>A	NP_000044.2:p.Val1206=
NM_001005918.2:c.2997G>A	NP_001005918.1:p.Val999=
NM_001243182.1:c.3285G>A	NP_001230111.1:p.Val1095=
XM_005266423.2:c.3522G>A	XP_005266480.1:p.Val1174=
XM_005266424.3:c.3522G>A	XP_005266481.1:p.Val1174=
XM_005266427.2:c.3384G>A	XP_005266484.1:p.Val1128=
XM_005266428.1:c.3366G>A	XP_005266485.1:p.Val1122=
XM_005266430.3:c.3618G>A	XP_005266487.1:p.Val1206=
XM_005266431.2:c.3582G>A	XP_005266488.1:p.Val1194=
XM_005266432.2:c.3132G>A	XP_005266489.1:p.Val1044=
XM_006719837.2:c.3522G>A	XP_006719900.1:p.Val1174=
XM_006719838.1:c.1434G>A	XP_006719901.1:p.Val478=
XM_006719839.1:c.1251G>A	XP_006719902.1:p.Val417=
XM_011535117.1:c.3522G>A	XP_011533419.1:p.Val1174=
XM_011535118.1:c.3483G>A	XP_011533420.1:p.Val1161=
XM_011535119.1:c.3435G>A	XP_011533421.1:p.Val1145=
XM_011535120.1:c.3204G>A	XP_011533422.1:p.Val1068=
XM_011535121.1:c.3105G>A	XP_011533423.1:p.Val1035=
XM_011535122.1:c.2286G>A	XP_011533424.1:p.Val762=
XR_941601.1:n.3837G>A
XR_941602.1:n.3837G>A
XR_941603.1:n.3837G>A
XR_941604.1:n.3837G>A
NM_001330578.1:c.3384G>A	NP_001317507.1:p.Val1128=
NM_001330579.1:c.3366G>A	NP_001317508.1:p.Val1122=
XM_005266424.4:c.3522G>A	XP_005266481.1:p.Val1174=
XM_005266430.4:c.3618G>A	XP_005266487.1:p.Val1206=
XM_005266431.4:c.3582G>A	XP_005266488.1:p.Val1194=
XM_006719837.3:c.3522G>A	XP_006719900.1:p.Val1174=
XM_011535117.3:c.3522G>A	XP_011533419.1:p.Val1174=
XM_017020627.1:c.3522G>A	XP_016876116.1:p.Val1174=
NM_000053.4:c.3618G>A MANE Select	NP_000044.2:p.Val1206=
NM_001005918.3:c.2997G>A	NP_001005918.1:p.Val999=
NM_001330579.2:c.3366G>A	NP_001317508.1:p.Val1122=
NM_001243182.2:c.3285G>A	NP_001230111.1:p.Val1095=
NM_001330578.2:c.3384G>A	NP_001317507.1:p.Val1128=