Canonical Allele Identifier: CA388026807

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515355C>G (hg19) ; chr13:g.51941219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941219C>G , CM000675.2:g.51941219C>G	GRCh38
NC_000013.10:g.52515355C>G , CM000675.1:g.52515355C>G	GRCh37
NC_000013.9:g.51413356C>G	NCBI36
NG_008806.1:g.75276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1068G>C	ENSP00000489512.2:n.*1068G>C
ENST00000673864.2:c.*2162G>C	ENSP00000501045.2:n.*2162G>C
ENST00000674147.2:c.2797G>C	ENSP00000500964.2:p.Val933Leu
ENST00000242839.10:c.3418G>C MANE Select	ENSP00000242839.5:p.Val1140Leu
ENST00000344297.9:c.2797G>C	ENSP00000342559.5:p.Val933Leu
ENST00000400366.6:c.3085G>C	ENSP00000383217.3:p.Val1029Leu
ENST00000448424.7:c.3166G>C	ENSP00000416738.3:p.Val1056Leu
ENST00000673772.1:c.3184G>C	ENSP00000501168.1:p.Val1062Leu
ENST00000673867.1:n.3557G>C
ENST00000674126.1:n.3781G>C
ENST00000674147.1:c.2353G>C	ENSP00000500964.1:p.Val785Leu
ENST00000242839.8:c.3418G>C	ENSP00000242839.4:p.Val1140Leu
ENST00000344297.8:c.2797G>C	ENSP00000342559.5:p.Val933Leu
ENST00000400366.5:c.3085G>C	ENSP00000383217.3:p.Val1029Leu
ENST00000400370.8:c.2128G>C	ENSP00000383221.3:p.Val710Leu
ENST00000418097.7:c.3223G>C	ENSP00000393343.2:p.Val1075Leu
ENST00000448424.6:c.3184G>C	ENSP00000416738.2:p.Val1062Leu
ENST00000634296.1:c.1196G>C
ENST00000634308.1:c.*519G>C	ENSP00000489234.1:n.*519G>C
ENST00000634620.1:n.4162G>C
ENST00000634810.1:n.2763G>C
ENST00000634844.1:c.3274G>C	ENSP00000489398.1:p.Val1092Leu
NM_000053.3:c.3418G>C	NP_000044.2:p.Val1140Leu
NM_001005918.2:c.2797G>C	NP_001005918.1:p.Val933Leu
NM_001243182.1:c.3085G>C	NP_001230111.1:p.Val1029Leu
XM_005266423.2:c.3322G>C	XP_005266480.1:p.Val1108Leu
XM_005266424.3:c.3322G>C	XP_005266481.1:p.Val1108Leu
XM_005266427.2:c.3184G>C	XP_005266484.1:p.Val1062Leu
XM_005266428.1:c.3166G>C	XP_005266485.1:p.Val1056Leu
XM_005266430.3:c.3418G>C	XP_005266487.1:p.Val1140Leu
XM_005266431.2:c.3382G>C	XP_005266488.1:p.Val1128Leu
XM_005266432.2:c.2932G>C	XP_005266489.1:p.Val978Leu
XM_006719837.2:c.3322G>C	XP_006719900.1:p.Val1108Leu
XM_006719838.1:c.1234G>C	XP_006719901.1:p.Val412Leu
XM_006719839.1:c.1051G>C	XP_006719902.1:p.Val351Leu
XM_011535117.1:c.3322G>C	XP_011533419.1:p.Val1108Leu
XM_011535118.1:c.3283G>C	XP_011533420.1:p.Val1095Leu
XM_011535119.1:c.3235G>C	XP_011533421.1:p.Val1079Leu
XM_011535120.1:c.3004G>C	XP_011533422.1:p.Val1002Leu
XM_011535121.1:c.2905G>C	XP_011533423.1:p.Val969Leu
XM_011535122.1:c.2086G>C	XP_011533424.1:p.Val696Leu
XR_941601.1:n.3637G>C
XR_941602.1:n.3637G>C
XR_941603.1:n.3637G>C
XR_941604.1:n.3637G>C
NM_001330578.1:c.3184G>C	NP_001317507.1:p.Val1062Leu
NM_001330579.1:c.3166G>C	NP_001317508.1:p.Val1056Leu
XM_005266424.4:c.3322G>C	XP_005266481.1:p.Val1108Leu
XM_005266430.4:c.3418G>C	XP_005266487.1:p.Val1140Leu
XM_005266431.4:c.3382G>C	XP_005266488.1:p.Val1128Leu
XM_006719837.3:c.3322G>C	XP_006719900.1:p.Val1108Leu
XM_011535117.3:c.3322G>C	XP_011533419.1:p.Val1108Leu
XM_017020627.1:c.3322G>C	XP_016876116.1:p.Val1108Leu
NM_000053.4:c.3418G>C MANE Select	NP_000044.2:p.Val1140Leu
NM_001005918.3:c.2797G>C	NP_001005918.1:p.Val933Leu
NM_001330579.2:c.3166G>C	NP_001317508.1:p.Val1056Leu
NM_001243182.2:c.3085G>C	NP_001230111.1:p.Val1029Leu
NM_001330578.2:c.3184G>C	NP_001317507.1:p.Val1062Leu