Canonical Allele Identifier: CA388024859

Gene: ATP7B

Linked Data

• dbSNP Id: rs766800003
• gnomAD v2: 13-52513329-C-G
• gnomAD v4: 13-51939193-C-G
• MyVariant Identifiers: chr13:g.52513329C>G (hg19) ; chr13:g.51939193C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939193C>G , CM000675.2:g.51939193C>G	GRCh38
NC_000013.10:g.52513329C>G , CM000675.1:g.52513329C>G	GRCh37
NC_000013.9:g.51411330C>G	NCBI36
NG_008806.1:g.77302G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1207G>C	ENSP00000489512.2:n.*1207G>C
ENST00000673864.2:c.*2301G>C	ENSP00000501045.2:n.*2301G>C
ENST00000674147.2:c.2936G>C	ENSP00000500964.2:p.Gly979Ala
ENST00000242839.10:c.3557G>C MANE Select	ENSP00000242839.5:p.Gly1186Ala
ENST00000344297.9:c.2936G>C	ENSP00000342559.5:p.Gly979Ala
ENST00000400366.6:c.3224G>C	ENSP00000383217.3:p.Gly1075Ala
ENST00000448424.7:c.3305G>C	ENSP00000416738.3:p.Gly1102Ala
ENST00000673696.1:n.798G>C
ENST00000673772.1:c.3323G>C	ENSP00000501168.1:p.Gly1108Ala
ENST00000673867.1:n.3696G>C
ENST00000673923.1:n.423G>C
ENST00000674147.1:c.2492G>C	ENSP00000500964.1:p.Gly831Ala
ENST00000242839.8:c.3557G>C	ENSP00000242839.4:p.Gly1186Ala
ENST00000344297.8:c.2936G>C	ENSP00000342559.5:p.Gly979Ala
ENST00000400366.5:c.3224G>C	ENSP00000383217.3:p.Gly1075Ala
ENST00000400370.8:c.2267G>C	ENSP00000383221.3:p.Gly756Ala
ENST00000418097.7:c.3362G>C	ENSP00000393343.2:p.Gly1121Ala
ENST00000448424.6:c.3323G>C	ENSP00000416738.2:p.Gly1108Ala
ENST00000634296.1:c.1335G>C
ENST00000634308.1:c.*658G>C	ENSP00000489234.1:n.*658G>C
ENST00000634620.1:n.4301G>C
ENST00000634810.1:n.2902G>C
ENST00000634844.1:c.3413G>C	ENSP00000489398.1:p.Gly1138Ala
NM_000053.3:c.3557G>C	NP_000044.2:p.Gly1186Ala
NM_001005918.2:c.2936G>C	NP_001005918.1:p.Gly979Ala
NM_001243182.1:c.3224G>C	NP_001230111.1:p.Gly1075Ala
XM_005266423.2:c.3461G>C	XP_005266480.1:p.Gly1154Ala
XM_005266424.3:c.3461G>C	XP_005266481.1:p.Gly1154Ala
XM_005266427.2:c.3323G>C	XP_005266484.1:p.Gly1108Ala
XM_005266428.1:c.3305G>C	XP_005266485.1:p.Gly1102Ala
XM_005266430.3:c.3557G>C	XP_005266487.1:p.Gly1186Ala
XM_005266431.2:c.3521G>C	XP_005266488.1:p.Gly1174Ala
XM_005266432.2:c.3071G>C	XP_005266489.1:p.Gly1024Ala
XM_006719837.2:c.3461G>C	XP_006719900.1:p.Gly1154Ala
XM_006719838.1:c.1373G>C	XP_006719901.1:p.Gly458Ala
XM_006719839.1:c.1190G>C	XP_006719902.1:p.Gly397Ala
XM_011535117.1:c.3461G>C	XP_011533419.1:p.Gly1154Ala
XM_011535118.1:c.3422G>C	XP_011533420.1:p.Gly1141Ala
XM_011535119.1:c.3374G>C	XP_011533421.1:p.Gly1125Ala
XM_011535120.1:c.3143G>C	XP_011533422.1:p.Gly1048Ala
XM_011535121.1:c.3044G>C	XP_011533423.1:p.Gly1015Ala
XM_011535122.1:c.2225G>C	XP_011533424.1:p.Gly742Ala
XR_941601.1:n.3776G>C
XR_941602.1:n.3776G>C
XR_941603.1:n.3776G>C
XR_941604.1:n.3776G>C
NM_001330578.1:c.3323G>C	NP_001317507.1:p.Gly1108Ala
NM_001330579.1:c.3305G>C	NP_001317508.1:p.Gly1102Ala
XM_005266424.4:c.3461G>C	XP_005266481.1:p.Gly1154Ala
XM_005266430.4:c.3557G>C	XP_005266487.1:p.Gly1186Ala
XM_005266431.4:c.3521G>C	XP_005266488.1:p.Gly1174Ala
XM_006719837.3:c.3461G>C	XP_006719900.1:p.Gly1154Ala
XM_011535117.3:c.3461G>C	XP_011533419.1:p.Gly1154Ala
XM_017020627.1:c.3461G>C	XP_016876116.1:p.Gly1154Ala
NM_000053.4:c.3557G>C MANE Select	NP_000044.2:p.Gly1186Ala
NM_001005918.3:c.2936G>C	NP_001005918.1:p.Gly979Ala
NM_001330579.2:c.3305G>C	NP_001317508.1:p.Gly1102Ala
NM_001243182.2:c.3224G>C	NP_001230111.1:p.Gly1075Ala
NM_001330578.2:c.3323G>C	NP_001317507.1:p.Gly1108Ala