Canonical Allele Identifier: CA388026674

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941193-A-C
• MyVariant Identifiers: chr13:g.52515329A>C (hg19) ; chr13:g.51941193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941193A>C , CM000675.2:g.51941193A>C	GRCh38
NC_000013.10:g.52515329A>C , CM000675.1:g.52515329A>C	GRCh37
NC_000013.9:g.51413330A>C	NCBI36
NG_008806.1:g.75302T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1094T>G	ENSP00000489512.2:n.*1094T>G
ENST00000673864.2:c.*2188T>G	ENSP00000501045.2:n.*2188T>G
ENST00000674147.2:c.2823T>G	ENSP00000500964.2:p.Ile941Met
ENST00000242839.10:c.3444T>G MANE Select	ENSP00000242839.5:p.Ile1148Met
ENST00000344297.9:c.2823T>G	ENSP00000342559.5:p.Ile941Met
ENST00000400366.6:c.3111T>G	ENSP00000383217.3:p.Ile1037Met
ENST00000448424.7:c.3192T>G	ENSP00000416738.3:p.Ile1064Met
ENST00000673772.1:c.3210T>G	ENSP00000501168.1:p.Ile1070Met
ENST00000673867.1:n.3583T>G
ENST00000674126.1:n.3807T>G
ENST00000674147.1:c.2379T>G	ENSP00000500964.1:p.Ile793Met
ENST00000242839.8:c.3444T>G	ENSP00000242839.4:p.Ile1148Met
ENST00000344297.8:c.2823T>G	ENSP00000342559.5:p.Ile941Met
ENST00000400366.5:c.3111T>G	ENSP00000383217.3:p.Ile1037Met
ENST00000400370.8:c.2154T>G	ENSP00000383221.3:p.Ile718Met
ENST00000418097.7:c.3249T>G	ENSP00000393343.2:p.Ile1083Met
ENST00000448424.6:c.3210T>G	ENSP00000416738.2:p.Ile1070Met
ENST00000634296.1:c.1222T>G
ENST00000634308.1:c.*545T>G	ENSP00000489234.1:n.*545T>G
ENST00000634620.1:n.4188T>G
ENST00000634810.1:n.2789T>G
ENST00000634844.1:c.3300T>G	ENSP00000489398.1:p.Ile1100Met
NM_000053.3:c.3444T>G	NP_000044.2:p.Ile1148Met
NM_001005918.2:c.2823T>G	NP_001005918.1:p.Ile941Met
NM_001243182.1:c.3111T>G	NP_001230111.1:p.Ile1037Met
XM_005266423.2:c.3348T>G	XP_005266480.1:p.Ile1116Met
XM_005266424.3:c.3348T>G	XP_005266481.1:p.Ile1116Met
XM_005266427.2:c.3210T>G	XP_005266484.1:p.Ile1070Met
XM_005266428.1:c.3192T>G	XP_005266485.1:p.Ile1064Met
XM_005266430.3:c.3444T>G	XP_005266487.1:p.Ile1148Met
XM_005266431.2:c.3408T>G	XP_005266488.1:p.Ile1136Met
XM_005266432.2:c.2958T>G	XP_005266489.1:p.Ile986Met
XM_006719837.2:c.3348T>G	XP_006719900.1:p.Ile1116Met
XM_006719838.1:c.1260T>G	XP_006719901.1:p.Ile420Met
XM_006719839.1:c.1077T>G	XP_006719902.1:p.Ile359Met
XM_011535117.1:c.3348T>G	XP_011533419.1:p.Ile1116Met
XM_011535118.1:c.3309T>G	XP_011533420.1:p.Ile1103Met
XM_011535119.1:c.3261T>G	XP_011533421.1:p.Ile1087Met
XM_011535120.1:c.3030T>G	XP_011533422.1:p.Ile1010Met
XM_011535121.1:c.2931T>G	XP_011533423.1:p.Ile977Met
XM_011535122.1:c.2112T>G	XP_011533424.1:p.Ile704Met
XR_941601.1:n.3663T>G
XR_941602.1:n.3663T>G
XR_941603.1:n.3663T>G
XR_941604.1:n.3663T>G
NM_001330578.1:c.3210T>G	NP_001317507.1:p.Ile1070Met
NM_001330579.1:c.3192T>G	NP_001317508.1:p.Ile1064Met
XM_005266424.4:c.3348T>G	XP_005266481.1:p.Ile1116Met
XM_005266430.4:c.3444T>G	XP_005266487.1:p.Ile1148Met
XM_005266431.4:c.3408T>G	XP_005266488.1:p.Ile1136Met
XM_006719837.3:c.3348T>G	XP_006719900.1:p.Ile1116Met
XM_011535117.3:c.3348T>G	XP_011533419.1:p.Ile1116Met
XM_017020627.1:c.3348T>G	XP_016876116.1:p.Ile1116Met
NM_000053.4:c.3444T>G MANE Select	NP_000044.2:p.Ile1148Met
NM_001005918.3:c.2823T>G	NP_001005918.1:p.Ile941Met
NM_001330579.2:c.3192T>G	NP_001317508.1:p.Ile1064Met
NM_001243182.2:c.3111T>G	NP_001230111.1:p.Ile1037Met
NM_001330578.2:c.3210T>G	NP_001317507.1:p.Ile1070Met