Canonical Allele Identifier: CA483896019

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52532468C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51958332C>G , CM000675.2:g.51958332C>G	GRCh38
NC_000013.10:g.52532468C>G , CM000675.1:g.52532468C>G	GRCh37
NC_000013.9:g.51430469C>G	NCBI36
NG_008806.1:g.58163G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*167G>C	ENSP00000489512.2:n.*167G>C
ENST00000673864.2:c.*1078G>C	ENSP00000501045.2:n.*1078G>C
ENST00000674147.2:c.1870-725G>C	ENSP00000500964.2:n.1870-725G>C
ENST00000242839.10:c.2334G>C MANE Select	ENSP00000242839.5:p.Arg778=
ENST00000344297.9:c.1870-725G>C	ENSP00000342559.5:n.1870-725G>C
ENST00000400366.6:c.2001G>C	ENSP00000383217.3:p.Arg667=
ENST00000448424.7:c.2082G>C	ENSP00000416738.3:p.Arg694=
ENST00000673772.1:c.2122-725G>C	ENSP00000501168.1:n.2122-725G>C
ENST00000674147.1:c.1426-725G>C	ENSP00000500964.1:n.1426-725G>C
ENST00000242839.8:c.2334G>C	ENSP00000242839.4:p.Arg778=
ENST00000344297.8:c.1870-725G>C	ENSP00000342559.5:n.1870-725G>C
ENST00000400366.5:c.2001G>C	ENSP00000383217.3:p.Arg667=
ENST00000400370.8:c.1286-8171G>C	ENSP00000383221.3:n.1286-8171G>C
ENST00000418097.7:c.2334G>C	ENSP00000393343.2:p.Arg778=
ENST00000448424.6:c.2122-725G>C	ENSP00000416738.2:n.2122-725G>C
ENST00000634296.1:c.295G>C
ENST00000634308.1:c.2122-725G>C	ENSP00000489234.1:n.2122-725G>C
ENST00000634620.1:n.2429G>C
ENST00000634810.1:n.1679G>C
ENST00000634844.1:c.2190G>C	ENSP00000489398.1:p.Arg730=
ENST00000635406.1:n.212-11854G>C
NM_000053.3:c.2334G>C	NP_000044.2:p.Arg778=
NM_001005918.2:c.1870-725G>C	NP_001005918.1:n.1870-725G>C
NM_001243182.1:c.2001G>C	NP_001230111.1:p.Arg667=
XM_005266423.2:c.2238G>C	XP_005266480.1:p.Arg746=
XM_005266424.3:c.2238G>C	XP_005266481.1:p.Arg746=
XM_005266427.2:c.2122-725G>C	XP_005266484.1:n.2122-725G>C
XM_005266428.1:c.2082G>C	XP_005266485.1:p.Arg694=
XM_005266430.3:c.2334G>C	XP_005266487.1:p.Arg778=
XM_005266431.2:c.2298G>C	XP_005266488.1:p.Arg766=
XM_005266432.2:c.1870-725G>C	XP_005266489.1:n.1870-725G>C
XM_006719837.2:c.2238G>C	XP_006719900.1:p.Arg746=
XM_006719838.1:c.150G>C	XP_006719901.1:p.Arg50=
XM_006719839.1:c.150G>C	XP_006719902.1:p.Arg50=
XM_011535117.1:c.2238G>C	XP_011533419.1:p.Arg746=
XM_011535118.1:c.2334G>C	XP_011533420.1:p.Arg778=
XM_011535119.1:c.2334G>C	XP_011533421.1:p.Arg778=
XM_011535120.1:c.1920G>C	XP_011533422.1:p.Arg640=
XM_011535121.1:c.2334G>C	XP_011533423.1:p.Arg778=
XM_011535122.1:c.1002G>C	XP_011533424.1:p.Arg334=
XR_941601.1:n.2553G>C
XR_941602.1:n.2553G>C
XR_941603.1:n.2553G>C
XR_941604.1:n.2553G>C
NM_001330578.1:c.2122-725G>C	NP_001317507.1:n.2122-725G>C
NM_001330579.1:c.2082G>C	NP_001317508.1:p.Arg694=
XM_005266424.4:c.2238G>C	XP_005266481.1:p.Arg746=
XM_005266430.4:c.2334G>C	XP_005266487.1:p.Arg778=
XM_005266431.4:c.2298G>C	XP_005266488.1:p.Arg766=
XM_006719837.3:c.2238G>C	XP_006719900.1:p.Arg746=
XM_011535117.3:c.2238G>C	XP_011533419.1:p.Arg746=
XM_017020627.1:c.2238G>C	XP_016876116.1:p.Arg746=
NM_000053.4:c.2334G>C MANE Select	NP_000044.2:p.Arg778=
NM_001005918.3:c.1870-725G>C	NP_001005918.1:n.1870-725G>C
NM_001330579.2:c.2082G>C	NP_001317508.1:p.Arg694=
NM_001243182.2:c.2001G>C	NP_001230111.1:p.Arg667=
NM_001330578.2:c.2122-725G>C	NP_001317507.1:n.2122-725G>C