Canonical Allele Identifier: CA483894019

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941162-A-G
• MyVariant Identifiers: chr13:g.52515298A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941162A>G , CM000675.2:g.51941162A>G	GRCh38
NC_000013.10:g.52515298A>G , CM000675.1:g.52515298A>G	GRCh37
NC_000013.9:g.51413299A>G	NCBI36
NG_008806.1:g.75333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1125T>C	ENSP00000489512.2:n.*1125T>C
ENST00000673864.2:c.*2219T>C	ENSP00000501045.2:n.*2219T>C
ENST00000674147.2:c.2854T>C	ENSP00000500964.2:p.Leu952=
ENST00000242839.10:c.3475T>C MANE Select	ENSP00000242839.5:p.Leu1159=
ENST00000344297.9:c.2854T>C	ENSP00000342559.5:p.Leu952=
ENST00000400366.6:c.3142T>C	ENSP00000383217.3:p.Leu1048=
ENST00000448424.7:c.3223T>C	ENSP00000416738.3:p.Leu1075=
ENST00000673772.1:c.3241T>C	ENSP00000501168.1:p.Leu1081=
ENST00000673867.1:n.3614T>C
ENST00000674126.1:n.3838T>C
ENST00000674147.1:c.2410T>C	ENSP00000500964.1:p.Leu804=
ENST00000242839.8:c.3475T>C	ENSP00000242839.4:p.Leu1159=
ENST00000344297.8:c.2854T>C	ENSP00000342559.5:p.Leu952=
ENST00000400366.5:c.3142T>C	ENSP00000383217.3:p.Leu1048=
ENST00000400370.8:c.2185T>C	ENSP00000383221.3:p.Leu729=
ENST00000418097.7:c.3280T>C	ENSP00000393343.2:p.Leu1094=
ENST00000448424.6:c.3241T>C	ENSP00000416738.2:p.Leu1081=
ENST00000634296.1:c.1253T>C
ENST00000634308.1:c.*576T>C	ENSP00000489234.1:n.*576T>C
ENST00000634620.1:n.4219T>C
ENST00000634810.1:n.2820T>C
ENST00000634844.1:c.3331T>C	ENSP00000489398.1:p.Leu1111=
NM_000053.3:c.3475T>C	NP_000044.2:p.Leu1159=
NM_001005918.2:c.2854T>C	NP_001005918.1:p.Leu952=
NM_001243182.1:c.3142T>C	NP_001230111.1:p.Leu1048=
XM_005266423.2:c.3379T>C	XP_005266480.1:p.Leu1127=
XM_005266424.3:c.3379T>C	XP_005266481.1:p.Leu1127=
XM_005266427.2:c.3241T>C	XP_005266484.1:p.Leu1081=
XM_005266428.1:c.3223T>C	XP_005266485.1:p.Leu1075=
XM_005266430.3:c.3475T>C	XP_005266487.1:p.Leu1159=
XM_005266431.2:c.3439T>C	XP_005266488.1:p.Leu1147=
XM_005266432.2:c.2989T>C	XP_005266489.1:p.Leu997=
XM_006719837.2:c.3379T>C	XP_006719900.1:p.Leu1127=
XM_006719838.1:c.1291T>C	XP_006719901.1:p.Leu431=
XM_006719839.1:c.1108T>C	XP_006719902.1:p.Leu370=
XM_011535117.1:c.3379T>C	XP_011533419.1:p.Leu1127=
XM_011535118.1:c.3340T>C	XP_011533420.1:p.Leu1114=
XM_011535119.1:c.3292T>C	XP_011533421.1:p.Leu1098=
XM_011535120.1:c.3061T>C	XP_011533422.1:p.Leu1021=
XM_011535121.1:c.2962T>C	XP_011533423.1:p.Leu988=
XM_011535122.1:c.2143T>C	XP_011533424.1:p.Leu715=
XR_941601.1:n.3694T>C
XR_941602.1:n.3694T>C
XR_941603.1:n.3694T>C
XR_941604.1:n.3694T>C
NM_001330578.1:c.3241T>C	NP_001317507.1:p.Leu1081=
NM_001330579.1:c.3223T>C	NP_001317508.1:p.Leu1075=
XM_005266424.4:c.3379T>C	XP_005266481.1:p.Leu1127=
XM_005266430.4:c.3475T>C	XP_005266487.1:p.Leu1159=
XM_005266431.4:c.3439T>C	XP_005266488.1:p.Leu1147=
XM_006719837.3:c.3379T>C	XP_006719900.1:p.Leu1127=
XM_011535117.3:c.3379T>C	XP_011533419.1:p.Leu1127=
XM_017020627.1:c.3379T>C	XP_016876116.1:p.Leu1127=
NM_000053.4:c.3475T>C MANE Select	NP_000044.2:p.Leu1159=
NM_001005918.3:c.2854T>C	NP_001005918.1:p.Leu952=
NM_001330579.2:c.3223T>C	NP_001317508.1:p.Leu1075=
NM_001243182.2:c.3142T>C	NP_001230111.1:p.Leu1048=
NM_001330578.2:c.3241T>C	NP_001317507.1:p.Leu1081=