Canonical Allele Identifier: CA388020860

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511438T>G (hg19) ; chr13:g.51937302T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937302T>G , CM000675.2:g.51937302T>G	GRCh38
NC_000013.10:g.52511438T>G , CM000675.1:g.52511438T>G	GRCh37
NC_000013.9:g.51409439T>G	NCBI36
NG_008806.1:g.79193A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1645A>C	ENSP00000489512.2:n.*1645A>C
ENST00000673864.2:c.*2739A>C	ENSP00000501045.2:n.*2739A>C
ENST00000674147.2:c.3374A>C	ENSP00000500964.2:p.Asn1125Thr
ENST00000242839.10:c.3995A>C MANE Select	ENSP00000242839.5:p.Asn1332Thr
ENST00000344297.9:c.3374A>C	ENSP00000342559.5:p.Asn1125Thr
ENST00000400366.6:c.3662A>C	ENSP00000383217.3:p.Asn1221Thr
ENST00000448424.7:c.3743A>C	ENSP00000416738.3:p.Asn1248Thr
ENST00000673696.1:n.1318A>C
ENST00000673772.1:c.3761A>C	ENSP00000501168.1:p.Asn1254Thr
ENST00000673867.1:n.4134A>C
ENST00000673923.1:n.861A>C
ENST00000674147.1:c.2930A>C	ENSP00000500964.1:p.Asn977Thr
ENST00000242839.8:c.3995A>C	ENSP00000242839.4:p.Asn1332Thr
ENST00000344297.8:c.3374A>C	ENSP00000342559.5:p.Asn1125Thr
ENST00000400366.5:c.3662A>C	ENSP00000383217.3:p.Asn1221Thr
ENST00000400370.8:c.2705A>C	ENSP00000383221.3:p.Asn902Thr
ENST00000418097.7:c.3800A>C	ENSP00000393343.2:p.Asn1267Thr
ENST00000448424.6:c.3761A>C	ENSP00000416738.2:p.Asn1254Thr
ENST00000634296.1:c.1773A>C
ENST00000634308.1:c.*1096A>C	ENSP00000489234.1:n.*1096A>C
ENST00000634620.1:n.4739A>C
ENST00000634810.1:n.3340A>C
ENST00000634844.1:c.3851A>C	ENSP00000489398.1:p.Asn1284Thr
NM_000053.3:c.3995A>C	NP_000044.2:p.Asn1332Thr
NM_001005918.2:c.3374A>C	NP_001005918.1:p.Asn1125Thr
NM_001243182.1:c.3662A>C	NP_001230111.1:p.Asn1221Thr
XM_005266423.2:c.3899A>C	XP_005266480.1:p.Asn1300Thr
XM_005266424.3:c.3899A>C	XP_005266481.1:p.Asn1300Thr
XM_005266427.2:c.3761A>C	XP_005266484.1:p.Asn1254Thr
XM_005266428.1:c.3743A>C	XP_005266485.1:p.Asn1248Thr
XM_005266430.3:c.3995A>C	XP_005266487.1:p.Asn1332Thr
XM_005266431.2:c.3959A>C	XP_005266488.1:p.Asn1320Thr
XM_005266432.2:c.3509A>C	XP_005266489.1:p.Asn1170Thr
XM_006719837.2:c.3899A>C	XP_006719900.1:p.Asn1300Thr
XM_006719838.1:c.1811A>C	XP_006719901.1:p.Asn604Thr
XM_006719839.1:c.1628A>C	XP_006719902.1:p.Asn543Thr
XM_011535117.1:c.3899A>C	XP_011533419.1:p.Asn1300Thr
XM_011535118.1:c.3860A>C	XP_011533420.1:p.Asn1287Thr
XM_011535119.1:c.3812A>C	XP_011533421.1:p.Asn1271Thr
XM_011535120.1:c.3581A>C	XP_011533422.1:p.Asn1194Thr
XM_011535121.1:c.3482A>C	XP_011533423.1:p.Asn1161Thr
XM_011535122.1:c.2663A>C	XP_011533424.1:p.Asn888Thr
XR_941601.1:n.4214A>C
XR_941602.1:n.4214A>C
XR_941603.1:n.4214A>C
XR_941604.1:n.4214A>C
NM_001330578.1:c.3761A>C	NP_001317507.1:p.Asn1254Thr
NM_001330579.1:c.3743A>C	NP_001317508.1:p.Asn1248Thr
XM_005266424.4:c.3899A>C	XP_005266481.1:p.Asn1300Thr
XM_005266430.4:c.3995A>C	XP_005266487.1:p.Asn1332Thr
XM_005266431.4:c.3959A>C	XP_005266488.1:p.Asn1320Thr
XM_006719837.3:c.3899A>C	XP_006719900.1:p.Asn1300Thr
XM_011535117.3:c.3899A>C	XP_011533419.1:p.Asn1300Thr
XM_017020627.1:c.3899A>C	XP_016876116.1:p.Asn1300Thr
NM_000053.4:c.3995A>C MANE Select	NP_000044.2:p.Asn1332Thr
NM_001005918.3:c.3374A>C	NP_001005918.1:p.Asn1125Thr
NM_001330579.2:c.3743A>C	NP_001317508.1:p.Asn1248Thr
NM_001243182.2:c.3662A>C	NP_001230111.1:p.Asn1221Thr
NM_001330578.2:c.3761A>C	NP_001317507.1:p.Asn1254Thr