Canonical Allele Identifier: CA388030215

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518352C>G (hg19) ; chr13:g.51944216C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944216C>G , CM000675.2:g.51944216C>G	GRCh38
NC_000013.10:g.52518352C>G , CM000675.1:g.52518352C>G	GRCh37
NC_000013.9:g.51416353C>G	NCBI36
NG_008806.1:g.72279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1662G>C	ENSP00000489512.2:n.*894-1662G>C
ENST00000673864.2:c.*1880G>C	ENSP00000501045.2:n.*1880G>C
ENST00000674147.2:c.2515G>C	ENSP00000500964.2:p.Gly839Arg
ENST00000242839.10:c.3136G>C MANE Select	ENSP00000242839.5:p.Gly1046Arg
ENST00000344297.9:c.2515G>C	ENSP00000342559.5:p.Gly839Arg
ENST00000400366.6:c.2803G>C	ENSP00000383217.3:p.Gly935Arg
ENST00000448424.7:c.2884G>C	ENSP00000416738.3:p.Gly962Arg
ENST00000673772.1:c.2902G>C	ENSP00000501168.1:p.Gly968Arg
ENST00000673867.1:n.3275G>C
ENST00000674126.1:n.3499G>C
ENST00000674147.1:c.2071G>C	ENSP00000500964.1:p.Gly691Arg
ENST00000242839.8:c.3136G>C	ENSP00000242839.4:p.Gly1046Arg
ENST00000344297.8:c.2515G>C	ENSP00000342559.5:p.Gly839Arg
ENST00000400366.5:c.2803G>C	ENSP00000383217.3:p.Gly935Arg
ENST00000400370.8:c.1846G>C	ENSP00000383221.3:p.Gly616Arg
ENST00000418097.7:c.2941G>C	ENSP00000393343.2:p.Gly981Arg
ENST00000448424.6:c.2902G>C	ENSP00000416738.2:p.Gly968Arg
ENST00000466629.1:n.356G>C
ENST00000634296.1:c.1022-1662G>C
ENST00000634308.1:c.*237G>C	ENSP00000489234.1:n.*237G>C
ENST00000634620.1:n.3880G>C
ENST00000634810.1:n.2481G>C
ENST00000634844.1:c.2992G>C	ENSP00000489398.1:p.Gly998Arg
ENST00000635406.1:n.482G>C
NM_000053.3:c.3136G>C	NP_000044.2:p.Gly1046Arg
NM_001005918.2:c.2515G>C	NP_001005918.1:p.Gly839Arg
NM_001243182.1:c.2803G>C	NP_001230111.1:p.Gly935Arg
XM_005266423.2:c.3040G>C	XP_005266480.1:p.Gly1014Arg
XM_005266424.3:c.3040G>C	XP_005266481.1:p.Gly1014Arg
XM_005266427.2:c.2902G>C	XP_005266484.1:p.Gly968Arg
XM_005266428.1:c.2884G>C	XP_005266485.1:p.Gly962Arg
XM_005266430.3:c.3136G>C	XP_005266487.1:p.Gly1046Arg
XM_005266431.2:c.3100G>C	XP_005266488.1:p.Gly1034Arg
XM_005266432.2:c.2650G>C	XP_005266489.1:p.Gly884Arg
XM_006719837.2:c.3040G>C	XP_006719900.1:p.Gly1014Arg
XM_006719838.1:c.952G>C	XP_006719901.1:p.Gly318Arg
XM_006719839.1:c.877-1662G>C	XP_006719902.1:n.877-1662G>C
XM_011535117.1:c.3040G>C	XP_011533419.1:p.Gly1014Arg
XM_011535118.1:c.3001G>C	XP_011533420.1:p.Gly1001Arg
XM_011535119.1:c.3061-1662G>C	XP_011533421.1:n.3061-1662G>C
XM_011535120.1:c.2722G>C	XP_011533422.1:p.Gly908Arg
XM_011535121.1:c.2731-1662G>C	XP_011533423.1:n.2731-1662G>C
XM_011535122.1:c.1804G>C	XP_011533424.1:p.Gly602Arg
XR_941601.1:n.3355G>C
XR_941602.1:n.3355G>C
XR_941603.1:n.3355G>C
XR_941604.1:n.3355G>C
NM_001330578.1:c.2902G>C	NP_001317507.1:p.Gly968Arg
NM_001330579.1:c.2884G>C	NP_001317508.1:p.Gly962Arg
XM_005266424.4:c.3040G>C	XP_005266481.1:p.Gly1014Arg
XM_005266430.4:c.3136G>C	XP_005266487.1:p.Gly1046Arg
XM_005266431.4:c.3100G>C	XP_005266488.1:p.Gly1034Arg
XM_006719837.3:c.3040G>C	XP_006719900.1:p.Gly1014Arg
XM_011535117.3:c.3040G>C	XP_011533419.1:p.Gly1014Arg
XM_017020627.1:c.3040G>C	XP_016876116.1:p.Gly1014Arg
NM_000053.4:c.3136G>C MANE Select	NP_000044.2:p.Gly1046Arg
NM_001005918.3:c.2515G>C	NP_001005918.1:p.Gly839Arg
NM_001330579.2:c.2884G>C	NP_001317508.1:p.Gly962Arg
NM_001243182.2:c.2803G>C	NP_001230111.1:p.Gly935Arg
NM_001330578.2:c.2902G>C	NP_001317507.1:p.Gly968Arg