Canonical Allele Identifier: CA388024263

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2097898
• ClinVar RCV Id: RCV003030685
• MyVariant Identifiers: chr13:g.52513270C>G (hg19) ; chr13:g.51939134C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939134C>G , CM000675.2:g.51939134C>G	GRCh38
NC_000013.10:g.52513270C>G , CM000675.1:g.52513270C>G	GRCh37
NC_000013.9:g.51411271C>G	NCBI36
NG_008806.1:g.77361G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1266G>C	ENSP00000489512.2:n.*1266G>C
ENST00000673864.2:c.*2360G>C	ENSP00000501045.2:n.*2360G>C
ENST00000674147.2:c.2995G>C	ENSP00000500964.2:p.Val999Leu
ENST00000242839.10:c.3616G>C MANE Select	ENSP00000242839.5:p.Val1206Leu
ENST00000344297.9:c.2995G>C	ENSP00000342559.5:p.Val999Leu
ENST00000400366.6:c.3283G>C	ENSP00000383217.3:p.Val1095Leu
ENST00000448424.7:c.3364G>C	ENSP00000416738.3:p.Val1122Leu
ENST00000673696.1:n.857G>C
ENST00000673772.1:c.3382G>C	ENSP00000501168.1:p.Val1128Leu
ENST00000673867.1:n.3755G>C
ENST00000673923.1:n.482G>C
ENST00000674147.1:c.2551G>C	ENSP00000500964.1:p.Val851Leu
ENST00000242839.8:c.3616G>C	ENSP00000242839.4:p.Val1206Leu
ENST00000344297.8:c.2995G>C	ENSP00000342559.5:p.Val999Leu
ENST00000400366.5:c.3283G>C	ENSP00000383217.3:p.Val1095Leu
ENST00000400370.8:c.2326G>C	ENSP00000383221.3:p.Val776Leu
ENST00000418097.7:c.3421G>C	ENSP00000393343.2:p.Val1141Leu
ENST00000448424.6:c.3382G>C	ENSP00000416738.2:p.Val1128Leu
ENST00000634296.1:c.1394G>C
ENST00000634308.1:c.*717G>C	ENSP00000489234.1:n.*717G>C
ENST00000634620.1:n.4360G>C
ENST00000634810.1:n.2961G>C
ENST00000634844.1:c.3472G>C	ENSP00000489398.1:p.Val1158Leu
NM_000053.3:c.3616G>C	NP_000044.2:p.Val1206Leu
NM_001005918.2:c.2995G>C	NP_001005918.1:p.Val999Leu
NM_001243182.1:c.3283G>C	NP_001230111.1:p.Val1095Leu
XM_005266423.2:c.3520G>C	XP_005266480.1:p.Val1174Leu
XM_005266424.3:c.3520G>C	XP_005266481.1:p.Val1174Leu
XM_005266427.2:c.3382G>C	XP_005266484.1:p.Val1128Leu
XM_005266428.1:c.3364G>C	XP_005266485.1:p.Val1122Leu
XM_005266430.3:c.3616G>C	XP_005266487.1:p.Val1206Leu
XM_005266431.2:c.3580G>C	XP_005266488.1:p.Val1194Leu
XM_005266432.2:c.3130G>C	XP_005266489.1:p.Val1044Leu
XM_006719837.2:c.3520G>C	XP_006719900.1:p.Val1174Leu
XM_006719838.1:c.1432G>C	XP_006719901.1:p.Val478Leu
XM_006719839.1:c.1249G>C	XP_006719902.1:p.Val417Leu
XM_011535117.1:c.3520G>C	XP_011533419.1:p.Val1174Leu
XM_011535118.1:c.3481G>C	XP_011533420.1:p.Val1161Leu
XM_011535119.1:c.3433G>C	XP_011533421.1:p.Val1145Leu
XM_011535120.1:c.3202G>C	XP_011533422.1:p.Val1068Leu
XM_011535121.1:c.3103G>C	XP_011533423.1:p.Val1035Leu
XM_011535122.1:c.2284G>C	XP_011533424.1:p.Val762Leu
XR_941601.1:n.3835G>C
XR_941602.1:n.3835G>C
XR_941603.1:n.3835G>C
XR_941604.1:n.3835G>C
NM_001330578.1:c.3382G>C	NP_001317507.1:p.Val1128Leu
NM_001330579.1:c.3364G>C	NP_001317508.1:p.Val1122Leu
XM_005266424.4:c.3520G>C	XP_005266481.1:p.Val1174Leu
XM_005266430.4:c.3616G>C	XP_005266487.1:p.Val1206Leu
XM_005266431.4:c.3580G>C	XP_005266488.1:p.Val1194Leu
XM_006719837.3:c.3520G>C	XP_006719900.1:p.Val1174Leu
XM_011535117.3:c.3520G>C	XP_011533419.1:p.Val1174Leu
XM_017020627.1:c.3520G>C	XP_016876116.1:p.Val1174Leu
NM_000053.4:c.3616G>C MANE Select	NP_000044.2:p.Val1206Leu
NM_001005918.3:c.2995G>C	NP_001005918.1:p.Val999Leu
NM_001330579.2:c.3364G>C	NP_001317508.1:p.Val1122Leu
NM_001243182.2:c.3283G>C	NP_001230111.1:p.Val1095Leu
NM_001330578.2:c.3382G>C	NP_001317507.1:p.Val1128Leu