Canonical Allele Identifier: CA388030811

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518427T>G (hg19) ; chr13:g.51944291T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944291T>G , CM000675.2:g.51944291T>G	GRCh38
NC_000013.10:g.52518427T>G , CM000675.1:g.52518427T>G	GRCh37
NC_000013.9:g.51416428T>G	NCBI36
NG_008806.1:g.72204A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1737A>C	ENSP00000489512.2:n.*894-1737A>C
ENST00000673864.2:c.*1805A>C	ENSP00000501045.2:n.*1805A>C
ENST00000674147.2:c.2440A>C	ENSP00000500964.2:p.Ile814Leu
ENST00000242839.10:c.3061A>C MANE Select	ENSP00000242839.5:p.Ile1021Leu
ENST00000344297.9:c.2440A>C	ENSP00000342559.5:p.Ile814Leu
ENST00000400366.6:c.2728A>C	ENSP00000383217.3:p.Ile910Leu
ENST00000448424.7:c.2809A>C	ENSP00000416738.3:p.Ile937Leu
ENST00000673772.1:c.2827A>C	ENSP00000501168.1:p.Ile943Leu
ENST00000673867.1:n.3200A>C
ENST00000674126.1:n.3424A>C
ENST00000674147.1:c.1996A>C	ENSP00000500964.1:p.Ile666Leu
ENST00000242839.8:c.3061A>C	ENSP00000242839.4:p.Ile1021Leu
ENST00000344297.8:c.2440A>C	ENSP00000342559.5:p.Ile814Leu
ENST00000400366.5:c.2728A>C	ENSP00000383217.3:p.Ile910Leu
ENST00000400370.8:c.1771A>C	ENSP00000383221.3:p.Ile591Leu
ENST00000418097.7:c.2866A>C	ENSP00000393343.2:p.Ile956Leu
ENST00000448424.6:c.2827A>C	ENSP00000416738.2:p.Ile943Leu
ENST00000466629.1:n.281A>C
ENST00000634296.1:c.1022-1737A>C
ENST00000634308.1:c.*162A>C	ENSP00000489234.1:n.*162A>C
ENST00000634620.1:n.3805A>C
ENST00000634810.1:n.2406A>C
ENST00000634844.1:c.2917A>C	ENSP00000489398.1:p.Ile973Leu
ENST00000635406.1:n.407A>C
NM_000053.3:c.3061A>C	NP_000044.2:p.Ile1021Leu
NM_001005918.2:c.2440A>C	NP_001005918.1:p.Ile814Leu
NM_001243182.1:c.2728A>C	NP_001230111.1:p.Ile910Leu
XM_005266423.2:c.2965A>C	XP_005266480.1:p.Ile989Leu
XM_005266424.3:c.2965A>C	XP_005266481.1:p.Ile989Leu
XM_005266427.2:c.2827A>C	XP_005266484.1:p.Ile943Leu
XM_005266428.1:c.2809A>C	XP_005266485.1:p.Ile937Leu
XM_005266430.3:c.3061A>C	XP_005266487.1:p.Ile1021Leu
XM_005266431.2:c.3025A>C	XP_005266488.1:p.Ile1009Leu
XM_005266432.2:c.2575A>C	XP_005266489.1:p.Ile859Leu
XM_006719837.2:c.2965A>C	XP_006719900.1:p.Ile989Leu
XM_006719838.1:c.877A>C	XP_006719901.1:p.Ile293Leu
XM_006719839.1:c.877-1737A>C	XP_006719902.1:n.877-1737A>C
XM_011535117.1:c.2965A>C	XP_011533419.1:p.Ile989Leu
XM_011535118.1:c.2926A>C	XP_011533420.1:p.Ile976Leu
XM_011535119.1:c.3061-1737A>C	XP_011533421.1:n.3061-1737A>C
XM_011535120.1:c.2647A>C	XP_011533422.1:p.Ile883Leu
XM_011535121.1:c.2731-1737A>C	XP_011533423.1:n.2731-1737A>C
XM_011535122.1:c.1729A>C	XP_011533424.1:p.Ile577Leu
XR_941601.1:n.3280A>C
XR_941602.1:n.3280A>C
XR_941603.1:n.3280A>C
XR_941604.1:n.3280A>C
NM_001330578.1:c.2827A>C	NP_001317507.1:p.Ile943Leu
NM_001330579.1:c.2809A>C	NP_001317508.1:p.Ile937Leu
XM_005266424.4:c.2965A>C	XP_005266481.1:p.Ile989Leu
XM_005266430.4:c.3061A>C	XP_005266487.1:p.Ile1021Leu
XM_005266431.4:c.3025A>C	XP_005266488.1:p.Ile1009Leu
XM_006719837.3:c.2965A>C	XP_006719900.1:p.Ile989Leu
XM_011535117.3:c.2965A>C	XP_011533419.1:p.Ile989Leu
XM_017020627.1:c.2965A>C	XP_016876116.1:p.Ile989Leu
NM_000053.4:c.3061A>C MANE Select	NP_000044.2:p.Ile1021Leu
NM_001005918.3:c.2440A>C	NP_001005918.1:p.Ile814Leu
NM_001330579.2:c.2809A>C	NP_001317508.1:p.Ile937Leu
NM_001243182.2:c.2728A>C	NP_001230111.1:p.Ile910Leu
NM_001330578.2:c.2827A>C	NP_001317507.1:p.Ile943Leu