Canonical Allele Identifier: CA388030333

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2124458
• ClinVar RCV Id: RCV003057170
• MyVariant Identifiers: chr13:g.52518370T>A (hg19) ; chr13:g.51944234T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944234T>A , CM000675.2:g.51944234T>A	GRCh38
NC_000013.10:g.52518370T>A , CM000675.1:g.52518370T>A	GRCh37
NC_000013.9:g.51416371T>A	NCBI36
NG_008806.1:g.72261A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*894-1680A>T	ENSP00000489512.2:n.*894-1680A>T
ENST00000673864.2:c.*1862A>T	ENSP00000501045.2:n.*1862A>T
ENST00000674147.2:c.2497A>T	ENSP00000500964.2:p.Met833Leu
ENST00000242839.10:c.3118A>T MANE Select	ENSP00000242839.5:p.Met1040Leu
ENST00000344297.9:c.2497A>T	ENSP00000342559.5:p.Met833Leu
ENST00000400366.6:c.2785A>T	ENSP00000383217.3:p.Met929Leu
ENST00000448424.7:c.2866A>T	ENSP00000416738.3:p.Met956Leu
ENST00000673772.1:c.2884A>T	ENSP00000501168.1:p.Met962Leu
ENST00000673867.1:n.3257A>T
ENST00000674126.1:n.3481A>T
ENST00000674147.1:c.2053A>T	ENSP00000500964.1:p.Met685Leu
ENST00000242839.8:c.3118A>T	ENSP00000242839.4:p.Met1040Leu
ENST00000344297.8:c.2497A>T	ENSP00000342559.5:p.Met833Leu
ENST00000400366.5:c.2785A>T	ENSP00000383217.3:p.Met929Leu
ENST00000400370.8:c.1828A>T	ENSP00000383221.3:p.Met610Leu
ENST00000418097.7:c.2923A>T	ENSP00000393343.2:p.Met975Leu
ENST00000448424.6:c.2884A>T	ENSP00000416738.2:p.Met962Leu
ENST00000466629.1:n.338A>T
ENST00000634296.1:c.1022-1680A>T
ENST00000634308.1:c.*219A>T	ENSP00000489234.1:n.*219A>T
ENST00000634620.1:n.3862A>T
ENST00000634810.1:n.2463A>T
ENST00000634844.1:c.2974A>T	ENSP00000489398.1:p.Met992Leu
ENST00000635406.1:n.464A>T
NM_000053.3:c.3118A>T	NP_000044.2:p.Met1040Leu
NM_001005918.2:c.2497A>T	NP_001005918.1:p.Met833Leu
NM_001243182.1:c.2785A>T	NP_001230111.1:p.Met929Leu
XM_005266423.2:c.3022A>T	XP_005266480.1:p.Met1008Leu
XM_005266424.3:c.3022A>T	XP_005266481.1:p.Met1008Leu
XM_005266427.2:c.2884A>T	XP_005266484.1:p.Met962Leu
XM_005266428.1:c.2866A>T	XP_005266485.1:p.Met956Leu
XM_005266430.3:c.3118A>T	XP_005266487.1:p.Met1040Leu
XM_005266431.2:c.3082A>T	XP_005266488.1:p.Met1028Leu
XM_005266432.2:c.2632A>T	XP_005266489.1:p.Met878Leu
XM_006719837.2:c.3022A>T	XP_006719900.1:p.Met1008Leu
XM_006719838.1:c.934A>T	XP_006719901.1:p.Met312Leu
XM_006719839.1:c.877-1680A>T	XP_006719902.1:n.877-1680A>T
XM_011535117.1:c.3022A>T	XP_011533419.1:p.Met1008Leu
XM_011535118.1:c.2983A>T	XP_011533420.1:p.Met995Leu
XM_011535119.1:c.3061-1680A>T	XP_011533421.1:n.3061-1680A>T
XM_011535120.1:c.2704A>T	XP_011533422.1:p.Met902Leu
XM_011535121.1:c.2731-1680A>T	XP_011533423.1:n.2731-1680A>T
XM_011535122.1:c.1786A>T	XP_011533424.1:p.Met596Leu
XR_941601.1:n.3337A>T
XR_941602.1:n.3337A>T
XR_941603.1:n.3337A>T
XR_941604.1:n.3337A>T
NM_001330578.1:c.2884A>T	NP_001317507.1:p.Met962Leu
NM_001330579.1:c.2866A>T	NP_001317508.1:p.Met956Leu
XM_005266424.4:c.3022A>T	XP_005266481.1:p.Met1008Leu
XM_005266430.4:c.3118A>T	XP_005266487.1:p.Met1040Leu
XM_005266431.4:c.3082A>T	XP_005266488.1:p.Met1028Leu
XM_006719837.3:c.3022A>T	XP_006719900.1:p.Met1008Leu
XM_011535117.3:c.3022A>T	XP_011533419.1:p.Met1008Leu
XM_017020627.1:c.3022A>T	XP_016876116.1:p.Met1008Leu
NM_000053.4:c.3118A>T MANE Select	NP_000044.2:p.Met1040Leu
NM_001005918.3:c.2497A>T	NP_001005918.1:p.Met833Leu
NM_001330579.2:c.2866A>T	NP_001317508.1:p.Met956Leu
NM_001243182.2:c.2785A>T	NP_001230111.1:p.Met929Leu
NM_001330578.2:c.2884A>T	NP_001317507.1:p.Met962Leu