Canonical Allele Identifier: CA6988681

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1098189
• ClinVar RCV Id: RCV001420033
• dbSNP Id: rs767069278
• ExAC: 13:52515311 C / T
• gnomAD v2: 13-52515311-C-T
• gnomAD v3: 13-51941175-C-T
• gnomAD v4: 13-51941175-C-T
• MyVariant Identifiers: chr13:g.52515311C>T (hg19) ; chr13:g.51941175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941175C>T , CM000675.2:g.51941175C>T	GRCh38
NC_000013.10:g.52515311C>T , CM000675.1:g.52515311C>T	GRCh37
NC_000013.9:g.51413312C>T	NCBI36
NG_008806.1:g.75320G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1112G>A	ENSP00000489512.2:n.*1112G>A
ENST00000673864.2:c.*2206G>A	ENSP00000501045.2:n.*2206G>A
ENST00000674147.2:c.2841G>A	ENSP00000500964.2:p.Leu947=
ENST00000242839.10:c.3462G>A MANE Select	ENSP00000242839.5:p.Leu1154=
ENST00000344297.9:c.2841G>A	ENSP00000342559.5:p.Leu947=
ENST00000400366.6:c.3129G>A	ENSP00000383217.3:p.Leu1043=
ENST00000448424.7:c.3210G>A	ENSP00000416738.3:p.Leu1070=
ENST00000673772.1:c.3228G>A	ENSP00000501168.1:p.Leu1076=
ENST00000673867.1:n.3601G>A
ENST00000674126.1:n.3825G>A
ENST00000674147.1:c.2397G>A	ENSP00000500964.1:p.Leu799=
ENST00000242839.8:c.3462G>A	ENSP00000242839.4:p.Leu1154=
ENST00000344297.8:c.2841G>A	ENSP00000342559.5:p.Leu947=
ENST00000400366.5:c.3129G>A	ENSP00000383217.3:p.Leu1043=
ENST00000400370.8:c.2172G>A	ENSP00000383221.3:p.Leu724=
ENST00000418097.7:c.3267G>A	ENSP00000393343.2:p.Leu1089=
ENST00000448424.6:c.3228G>A	ENSP00000416738.2:p.Leu1076=
ENST00000634296.1:c.1240G>A
ENST00000634308.1:c.*563G>A	ENSP00000489234.1:n.*563G>A
ENST00000634620.1:n.4206G>A
ENST00000634810.1:n.2807G>A
ENST00000634844.1:c.3318G>A	ENSP00000489398.1:p.Leu1106=
NM_000053.3:c.3462G>A	NP_000044.2:p.Leu1154=
NM_001005918.2:c.2841G>A	NP_001005918.1:p.Leu947=
NM_001243182.1:c.3129G>A	NP_001230111.1:p.Leu1043=
XM_005266423.2:c.3366G>A	XP_005266480.1:p.Leu1122=
XM_005266424.3:c.3366G>A	XP_005266481.1:p.Leu1122=
XM_005266427.2:c.3228G>A	XP_005266484.1:p.Leu1076=
XM_005266428.1:c.3210G>A	XP_005266485.1:p.Leu1070=
XM_005266430.3:c.3462G>A	XP_005266487.1:p.Leu1154=
XM_005266431.2:c.3426G>A	XP_005266488.1:p.Leu1142=
XM_005266432.2:c.2976G>A	XP_005266489.1:p.Leu992=
XM_006719837.2:c.3366G>A	XP_006719900.1:p.Leu1122=
XM_006719838.1:c.1278G>A	XP_006719901.1:p.Leu426=
XM_006719839.1:c.1095G>A	XP_006719902.1:p.Leu365=
XM_011535117.1:c.3366G>A	XP_011533419.1:p.Leu1122=
XM_011535118.1:c.3327G>A	XP_011533420.1:p.Leu1109=
XM_011535119.1:c.3279G>A	XP_011533421.1:p.Leu1093=
XM_011535120.1:c.3048G>A	XP_011533422.1:p.Leu1016=
XM_011535121.1:c.2949G>A	XP_011533423.1:p.Leu983=
XM_011535122.1:c.2130G>A	XP_011533424.1:p.Leu710=
XR_941601.1:n.3681G>A
XR_941602.1:n.3681G>A
XR_941603.1:n.3681G>A
XR_941604.1:n.3681G>A
NM_001330578.1:c.3228G>A	NP_001317507.1:p.Leu1076=
NM_001330579.1:c.3210G>A	NP_001317508.1:p.Leu1070=
XM_005266424.4:c.3366G>A	XP_005266481.1:p.Leu1122=
XM_005266430.4:c.3462G>A	XP_005266487.1:p.Leu1154=
XM_005266431.4:c.3426G>A	XP_005266488.1:p.Leu1142=
XM_006719837.3:c.3366G>A	XP_006719900.1:p.Leu1122=
XM_011535117.3:c.3366G>A	XP_011533419.1:p.Leu1122=
XM_017020627.1:c.3366G>A	XP_016876116.1:p.Leu1122=
NM_000053.4:c.3462G>A MANE Select	NP_000044.2:p.Leu1154=
NM_001005918.3:c.2841G>A	NP_001005918.1:p.Leu947=
NM_001330579.2:c.3210G>A	NP_001317508.1:p.Leu1070=
NM_001243182.2:c.3129G>A	NP_001230111.1:p.Leu1043=
NM_001330578.2:c.3228G>A	NP_001317507.1:p.Leu1076=