Canonical Allele Identifier: CA388020913

Gene: ATP7B

Linked Data

• COSMIC: COSM3987431
• MyVariant Identifiers: chr13:g.52511445T>G (hg19) ; chr13:g.51937309T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937309T>G , CM000675.2:g.51937309T>G	GRCh38
NC_000013.10:g.52511445T>G , CM000675.1:g.52511445T>G	GRCh37
NC_000013.9:g.51409446T>G	NCBI36
NG_008806.1:g.79186A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1638A>C	ENSP00000489512.2:n.*1638A>C
ENST00000673864.2:c.*2732A>C	ENSP00000501045.2:n.*2732A>C
ENST00000674147.2:c.3367A>C	ENSP00000500964.2:p.Ile1123Leu
ENST00000242839.10:c.3988A>C MANE Select	ENSP00000242839.5:p.Ile1330Leu
ENST00000344297.9:c.3367A>C	ENSP00000342559.5:p.Ile1123Leu
ENST00000400366.6:c.3655A>C	ENSP00000383217.3:p.Ile1219Leu
ENST00000448424.7:c.3736A>C	ENSP00000416738.3:p.Ile1246Leu
ENST00000673696.1:n.1311A>C
ENST00000673772.1:c.3754A>C	ENSP00000501168.1:p.Ile1252Leu
ENST00000673867.1:n.4127A>C
ENST00000673923.1:n.854A>C
ENST00000674147.1:c.2923A>C	ENSP00000500964.1:p.Ile975Leu
ENST00000242839.8:c.3988A>C	ENSP00000242839.4:p.Ile1330Leu
ENST00000344297.8:c.3367A>C	ENSP00000342559.5:p.Ile1123Leu
ENST00000400366.5:c.3655A>C	ENSP00000383217.3:p.Ile1219Leu
ENST00000400370.8:c.2698A>C	ENSP00000383221.3:p.Ile900Leu
ENST00000418097.7:c.3793A>C	ENSP00000393343.2:p.Ile1265Leu
ENST00000448424.6:c.3754A>C	ENSP00000416738.2:p.Ile1252Leu
ENST00000634296.1:c.1766A>C
ENST00000634308.1:c.*1089A>C	ENSP00000489234.1:n.*1089A>C
ENST00000634620.1:n.4732A>C
ENST00000634810.1:n.3333A>C
ENST00000634844.1:c.3844A>C	ENSP00000489398.1:p.Ile1282Leu
NM_000053.3:c.3988A>C	NP_000044.2:p.Ile1330Leu
NM_001005918.2:c.3367A>C	NP_001005918.1:p.Ile1123Leu
NM_001243182.1:c.3655A>C	NP_001230111.1:p.Ile1219Leu
XM_005266423.2:c.3892A>C	XP_005266480.1:p.Ile1298Leu
XM_005266424.3:c.3892A>C	XP_005266481.1:p.Ile1298Leu
XM_005266427.2:c.3754A>C	XP_005266484.1:p.Ile1252Leu
XM_005266428.1:c.3736A>C	XP_005266485.1:p.Ile1246Leu
XM_005266430.3:c.3988A>C	XP_005266487.1:p.Ile1330Leu
XM_005266431.2:c.3952A>C	XP_005266488.1:p.Ile1318Leu
XM_005266432.2:c.3502A>C	XP_005266489.1:p.Ile1168Leu
XM_006719837.2:c.3892A>C	XP_006719900.1:p.Ile1298Leu
XM_006719838.1:c.1804A>C	XP_006719901.1:p.Ile602Leu
XM_006719839.1:c.1621A>C	XP_006719902.1:p.Ile541Leu
XM_011535117.1:c.3892A>C	XP_011533419.1:p.Ile1298Leu
XM_011535118.1:c.3853A>C	XP_011533420.1:p.Ile1285Leu
XM_011535119.1:c.3805A>C	XP_011533421.1:p.Ile1269Leu
XM_011535120.1:c.3574A>C	XP_011533422.1:p.Ile1192Leu
XM_011535121.1:c.3475A>C	XP_011533423.1:p.Ile1159Leu
XM_011535122.1:c.2656A>C	XP_011533424.1:p.Ile886Leu
XR_941601.1:n.4207A>C
XR_941602.1:n.4207A>C
XR_941603.1:n.4207A>C
XR_941604.1:n.4207A>C
NM_001330578.1:c.3754A>C	NP_001317507.1:p.Ile1252Leu
NM_001330579.1:c.3736A>C	NP_001317508.1:p.Ile1246Leu
XM_005266424.4:c.3892A>C	XP_005266481.1:p.Ile1298Leu
XM_005266430.4:c.3988A>C	XP_005266487.1:p.Ile1330Leu
XM_005266431.4:c.3952A>C	XP_005266488.1:p.Ile1318Leu
XM_006719837.3:c.3892A>C	XP_006719900.1:p.Ile1298Leu
XM_011535117.3:c.3892A>C	XP_011533419.1:p.Ile1298Leu
XM_017020627.1:c.3892A>C	XP_016876116.1:p.Ile1298Leu
NM_000053.4:c.3988A>C MANE Select	NP_000044.2:p.Ile1330Leu
NM_001005918.3:c.3367A>C	NP_001005918.1:p.Ile1123Leu
NM_001330579.2:c.3736A>C	NP_001317508.1:p.Ile1246Leu
NM_001243182.2:c.3655A>C	NP_001230111.1:p.Ile1219Leu
NM_001330578.2:c.3754A>C	NP_001317507.1:p.Ile1252Leu