Canonical Allele Identifier: CA388025964

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 3073072
• ClinVar RCV Id: RCV004015086
• MyVariant Identifiers: chr13:g.52515229C>G (hg19) ; chr13:g.51941093C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941093C>G , CM000675.2:g.51941093C>G	GRCh38
NC_000013.10:g.52515229C>G , CM000675.1:g.52515229C>G	GRCh37
NC_000013.9:g.51413230C>G	NCBI36
NG_008806.1:g.75402G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1194G>C	ENSP00000489512.2:n.*1194G>C
ENST00000673864.2:c.*2288G>C	ENSP00000501045.2:n.*2288G>C
ENST00000674147.2:c.2923G>C	ENSP00000500964.2:p.Val975Leu
ENST00000242839.10:c.3544G>C MANE Select	ENSP00000242839.5:p.Val1182Leu
ENST00000344297.9:c.2923G>C	ENSP00000342559.5:p.Val975Leu
ENST00000400366.6:c.3211G>C	ENSP00000383217.3:p.Val1071Leu
ENST00000448424.7:c.3292G>C	ENSP00000416738.3:p.Val1098Leu
ENST00000673772.1:c.3310G>C	ENSP00000501168.1:p.Val1104Leu
ENST00000673867.1:n.3683G>C
ENST00000674126.1:n.3907G>C
ENST00000674147.1:c.2479G>C	ENSP00000500964.1:p.Val827Leu
ENST00000242839.8:c.3544G>C	ENSP00000242839.4:p.Val1182Leu
ENST00000344297.8:c.2923G>C	ENSP00000342559.5:p.Val975Leu
ENST00000400366.5:c.3211G>C	ENSP00000383217.3:p.Val1071Leu
ENST00000400370.8:c.2254G>C	ENSP00000383221.3:p.Val752Leu
ENST00000418097.7:c.3349G>C	ENSP00000393343.2:p.Val1117Leu
ENST00000448424.6:c.3310G>C	ENSP00000416738.2:p.Val1104Leu
ENST00000634296.1:c.1322G>C
ENST00000634308.1:c.*645G>C	ENSP00000489234.1:n.*645G>C
ENST00000634620.1:n.4288G>C
ENST00000634810.1:n.2889G>C
ENST00000634844.1:c.3400G>C	ENSP00000489398.1:p.Val1134Leu
NM_000053.3:c.3544G>C	NP_000044.2:p.Val1182Leu
NM_001005918.2:c.2923G>C	NP_001005918.1:p.Val975Leu
NM_001243182.1:c.3211G>C	NP_001230111.1:p.Val1071Leu
XM_005266423.2:c.3448G>C	XP_005266480.1:p.Val1150Leu
XM_005266424.3:c.3448G>C	XP_005266481.1:p.Val1150Leu
XM_005266427.2:c.3310G>C	XP_005266484.1:p.Val1104Leu
XM_005266428.1:c.3292G>C	XP_005266485.1:p.Val1098Leu
XM_005266430.3:c.3544G>C	XP_005266487.1:p.Val1182Leu
XM_005266431.2:c.3508G>C	XP_005266488.1:p.Val1170Leu
XM_005266432.2:c.3058G>C	XP_005266489.1:p.Val1020Leu
XM_006719837.2:c.3448G>C	XP_006719900.1:p.Val1150Leu
XM_006719838.1:c.1360G>C	XP_006719901.1:p.Val454Leu
XM_006719839.1:c.1177G>C	XP_006719902.1:p.Val393Leu
XM_011535117.1:c.3448G>C	XP_011533419.1:p.Val1150Leu
XM_011535118.1:c.3409G>C	XP_011533420.1:p.Val1137Leu
XM_011535119.1:c.3361G>C	XP_011533421.1:p.Val1121Leu
XM_011535120.1:c.3130G>C	XP_011533422.1:p.Val1044Leu
XM_011535121.1:c.3031G>C	XP_011533423.1:p.Val1011Leu
XM_011535122.1:c.2212G>C	XP_011533424.1:p.Val738Leu
XR_941601.1:n.3763G>C
XR_941602.1:n.3763G>C
XR_941603.1:n.3763G>C
XR_941604.1:n.3763G>C
NM_001330578.1:c.3310G>C	NP_001317507.1:p.Val1104Leu
NM_001330579.1:c.3292G>C	NP_001317508.1:p.Val1098Leu
XM_005266424.4:c.3448G>C	XP_005266481.1:p.Val1150Leu
XM_005266430.4:c.3544G>C	XP_005266487.1:p.Val1182Leu
XM_005266431.4:c.3508G>C	XP_005266488.1:p.Val1170Leu
XM_006719837.3:c.3448G>C	XP_006719900.1:p.Val1150Leu
XM_011535117.3:c.3448G>C	XP_011533419.1:p.Val1150Leu
XM_017020627.1:c.3448G>C	XP_016876116.1:p.Val1150Leu
NM_000053.4:c.3544G>C MANE Select	NP_000044.2:p.Val1182Leu
NM_001005918.3:c.2923G>C	NP_001005918.1:p.Val975Leu
NM_001330579.2:c.3292G>C	NP_001317508.1:p.Val1098Leu
NM_001243182.2:c.3211G>C	NP_001230111.1:p.Val1071Leu
NM_001330578.2:c.3310G>C	NP_001317507.1:p.Val1104Leu