Canonical Allele Identifier: CA388030509

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518394T>G (hg19) ; chr13:g.51944258T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944258T>G , CM000675.2:g.51944258T>G	GRCh38
NC_000013.10:g.52518394T>G , CM000675.1:g.52518394T>G	GRCh37
NC_000013.9:g.51416395T>G	NCBI36
NG_008806.1:g.72237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1704A>C	ENSP00000489512.2:n.*894-1704A>C
ENST00000673864.2:c.*1838A>C	ENSP00000501045.2:n.*1838A>C
ENST00000674147.2:c.2473A>C	ENSP00000500964.2:p.Ile825Leu
ENST00000242839.10:c.3094A>C MANE Select	ENSP00000242839.5:p.Ile1032Leu
ENST00000344297.9:c.2473A>C	ENSP00000342559.5:p.Ile825Leu
ENST00000400366.6:c.2761A>C	ENSP00000383217.3:p.Ile921Leu
ENST00000448424.7:c.2842A>C	ENSP00000416738.3:p.Ile948Leu
ENST00000673772.1:c.2860A>C	ENSP00000501168.1:p.Ile954Leu
ENST00000673867.1:n.3233A>C
ENST00000674126.1:n.3457A>C
ENST00000674147.1:c.2029A>C	ENSP00000500964.1:p.Ile677Leu
ENST00000242839.8:c.3094A>C	ENSP00000242839.4:p.Ile1032Leu
ENST00000344297.8:c.2473A>C	ENSP00000342559.5:p.Ile825Leu
ENST00000400366.5:c.2761A>C	ENSP00000383217.3:p.Ile921Leu
ENST00000400370.8:c.1804A>C	ENSP00000383221.3:p.Ile602Leu
ENST00000418097.7:c.2899A>C	ENSP00000393343.2:p.Ile967Leu
ENST00000448424.6:c.2860A>C	ENSP00000416738.2:p.Ile954Leu
ENST00000466629.1:n.314A>C
ENST00000634296.1:c.1022-1704A>C
ENST00000634308.1:c.*195A>C	ENSP00000489234.1:n.*195A>C
ENST00000634620.1:n.3838A>C
ENST00000634810.1:n.2439A>C
ENST00000634844.1:c.2950A>C	ENSP00000489398.1:p.Ile984Leu
ENST00000635406.1:n.440A>C
NM_000053.3:c.3094A>C	NP_000044.2:p.Ile1032Leu
NM_001005918.2:c.2473A>C	NP_001005918.1:p.Ile825Leu
NM_001243182.1:c.2761A>C	NP_001230111.1:p.Ile921Leu
XM_005266423.2:c.2998A>C	XP_005266480.1:p.Ile1000Leu
XM_005266424.3:c.2998A>C	XP_005266481.1:p.Ile1000Leu
XM_005266427.2:c.2860A>C	XP_005266484.1:p.Ile954Leu
XM_005266428.1:c.2842A>C	XP_005266485.1:p.Ile948Leu
XM_005266430.3:c.3094A>C	XP_005266487.1:p.Ile1032Leu
XM_005266431.2:c.3058A>C	XP_005266488.1:p.Ile1020Leu
XM_005266432.2:c.2608A>C	XP_005266489.1:p.Ile870Leu
XM_006719837.2:c.2998A>C	XP_006719900.1:p.Ile1000Leu
XM_006719838.1:c.910A>C	XP_006719901.1:p.Ile304Leu
XM_006719839.1:c.877-1704A>C	XP_006719902.1:n.877-1704A>C
XM_011535117.1:c.2998A>C	XP_011533419.1:p.Ile1000Leu
XM_011535118.1:c.2959A>C	XP_011533420.1:p.Ile987Leu
XM_011535119.1:c.3061-1704A>C	XP_011533421.1:n.3061-1704A>C
XM_011535120.1:c.2680A>C	XP_011533422.1:p.Ile894Leu
XM_011535121.1:c.2731-1704A>C	XP_011533423.1:n.2731-1704A>C
XM_011535122.1:c.1762A>C	XP_011533424.1:p.Ile588Leu
XR_941601.1:n.3313A>C
XR_941602.1:n.3313A>C
XR_941603.1:n.3313A>C
XR_941604.1:n.3313A>C
NM_001330578.1:c.2860A>C	NP_001317507.1:p.Ile954Leu
NM_001330579.1:c.2842A>C	NP_001317508.1:p.Ile948Leu
XM_005266424.4:c.2998A>C	XP_005266481.1:p.Ile1000Leu
XM_005266430.4:c.3094A>C	XP_005266487.1:p.Ile1032Leu
XM_005266431.4:c.3058A>C	XP_005266488.1:p.Ile1020Leu
XM_006719837.3:c.2998A>C	XP_006719900.1:p.Ile1000Leu
XM_011535117.3:c.2998A>C	XP_011533419.1:p.Ile1000Leu
XM_017020627.1:c.2998A>C	XP_016876116.1:p.Ile1000Leu
NM_000053.4:c.3094A>C MANE Select	NP_000044.2:p.Ile1032Leu
NM_001005918.3:c.2473A>C	NP_001005918.1:p.Ile825Leu
NM_001330579.2:c.2842A>C	NP_001317508.1:p.Ile948Leu
NM_001243182.2:c.2761A>C	NP_001230111.1:p.Ile921Leu
NM_001330578.2:c.2860A>C	NP_001317507.1:p.Ile954Leu