Canonical Allele Identifier: CA171321

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 157952
• ClinVar RCV Id: RCV000145277 ; RCV000667056 ; RCV001576695
• dbSNP Id: rs587783315
• MyVariant Identifiers: chr13:g.52515225G>C (hg19) ; chr13:g.51941089G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941089G>C , CM000675.2:g.51941089G>C	GRCh38
NC_000013.10:g.52515225G>C , CM000675.1:g.52515225G>C	GRCh37
NC_000013.9:g.51413226G>C	NCBI36
NG_008806.1:g.75406C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1198C>G	ENSP00000489512.2:n.*1198C>G
ENST00000673864.2:c.*2292C>G	ENSP00000501045.2:n.*2292C>G
ENST00000674147.2:c.2927C>G	ENSP00000500964.2:p.Ala976Gly
ENST00000242839.10:c.3548C>G MANE Select	ENSP00000242839.5:p.Ala1183Gly
ENST00000344297.9:c.2927C>G	ENSP00000342559.5:p.Ala976Gly
ENST00000400366.6:c.3215C>G	ENSP00000383217.3:p.Ala1072Gly
ENST00000448424.7:c.3296C>G	ENSP00000416738.3:p.Ala1099Gly
ENST00000673772.1:c.3314C>G	ENSP00000501168.1:p.Ala1105Gly
ENST00000673867.1:n.3687C>G
ENST00000674126.1:n.3911C>G
ENST00000674147.1:c.2483C>G	ENSP00000500964.1:p.Ala828Gly
ENST00000242839.8:c.3548C>G	ENSP00000242839.4:p.Ala1183Gly
ENST00000344297.8:c.2927C>G	ENSP00000342559.5:p.Ala976Gly
ENST00000400366.5:c.3215C>G	ENSP00000383217.3:p.Ala1072Gly
ENST00000400370.8:c.2258C>G	ENSP00000383221.3:p.Ala753Gly
ENST00000418097.7:c.3353C>G	ENSP00000393343.2:p.Ala1118Gly
ENST00000448424.6:c.3314C>G	ENSP00000416738.2:p.Ala1105Gly
ENST00000634296.1:c.1326C>G
ENST00000634308.1:c.*649C>G	ENSP00000489234.1:n.*649C>G
ENST00000634620.1:n.4292C>G
ENST00000634810.1:n.2893C>G
ENST00000634844.1:c.3404C>G	ENSP00000489398.1:p.Ala1135Gly
NM_000053.3:c.3548C>G	NP_000044.2:p.Ala1183Gly
NM_001005918.2:c.2927C>G	NP_001005918.1:p.Ala976Gly
NM_001243182.1:c.3215C>G	NP_001230111.1:p.Ala1072Gly
XM_005266423.2:c.3452C>G	XP_005266480.1:p.Ala1151Gly
XM_005266424.3:c.3452C>G	XP_005266481.1:p.Ala1151Gly
XM_005266427.2:c.3314C>G	XP_005266484.1:p.Ala1105Gly
XM_005266428.1:c.3296C>G	XP_005266485.1:p.Ala1099Gly
XM_005266430.3:c.3548C>G	XP_005266487.1:p.Ala1183Gly
XM_005266431.2:c.3512C>G	XP_005266488.1:p.Ala1171Gly
XM_005266432.2:c.3062C>G	XP_005266489.1:p.Ala1021Gly
XM_006719837.2:c.3452C>G	XP_006719900.1:p.Ala1151Gly
XM_006719838.1:c.1364C>G	XP_006719901.1:p.Ala455Gly
XM_006719839.1:c.1181C>G	XP_006719902.1:p.Ala394Gly
XM_011535117.1:c.3452C>G	XP_011533419.1:p.Ala1151Gly
XM_011535118.1:c.3413C>G	XP_011533420.1:p.Ala1138Gly
XM_011535119.1:c.3365C>G	XP_011533421.1:p.Ala1122Gly
XM_011535120.1:c.3134C>G	XP_011533422.1:p.Ala1045Gly
XM_011535121.1:c.3035C>G	XP_011533423.1:p.Ala1012Gly
XM_011535122.1:c.2216C>G	XP_011533424.1:p.Ala739Gly
XR_941601.1:n.3767C>G
XR_941602.1:n.3767C>G
XR_941603.1:n.3767C>G
XR_941604.1:n.3767C>G
NM_001330578.1:c.3314C>G	NP_001317507.1:p.Ala1105Gly
NM_001330579.1:c.3296C>G	NP_001317508.1:p.Ala1099Gly
XM_005266424.4:c.3452C>G	XP_005266481.1:p.Ala1151Gly
XM_005266430.4:c.3548C>G	XP_005266487.1:p.Ala1183Gly
XM_005266431.4:c.3512C>G	XP_005266488.1:p.Ala1171Gly
XM_006719837.3:c.3452C>G	XP_006719900.1:p.Ala1151Gly
XM_011535117.3:c.3452C>G	XP_011533419.1:p.Ala1151Gly
XM_017020627.1:c.3452C>G	XP_016876116.1:p.Ala1151Gly
NM_000053.4:c.3548C>G MANE Select	NP_000044.2:p.Ala1183Gly
NM_001005918.3:c.2927C>G	NP_001005918.1:p.Ala976Gly
NM_001330579.2:c.3296C>G	NP_001317508.1:p.Ala1099Gly
NM_001243182.2:c.3215C>G	NP_001230111.1:p.Ala1072Gly
NM_001330578.2:c.3314C>G	NP_001317507.1:p.Ala1105Gly