Canonical Allele Identifier: CA388024703

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 591311
• ClinVar RCV Id: RCV000722489
• dbSNP Id: rs1566452960
• gnomAD v3: 13-51939179-T-C
• gnomAD v4: 13-51939179-T-C
• MyVariant Identifiers: chr13:g.52513315T>C (hg19) ; chr13:g.51939179T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939179T>C , CM000675.2:g.51939179T>C	GRCh38
NC_000013.10:g.52513315T>C , CM000675.1:g.52513315T>C	GRCh37
NC_000013.9:g.51411316T>C	NCBI36
NG_008806.1:g.77316A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1221A>G	ENSP00000489512.2:n.*1221A>G
ENST00000673864.2:c.*2315A>G	ENSP00000501045.2:n.*2315A>G
ENST00000674147.2:c.2950A>G	ENSP00000500964.2:p.Met984Val
ENST00000242839.10:c.3571A>G MANE Select	ENSP00000242839.5:p.Met1191Val
ENST00000344297.9:c.2950A>G	ENSP00000342559.5:p.Met984Val
ENST00000400366.6:c.3238A>G	ENSP00000383217.3:p.Met1080Val
ENST00000448424.7:c.3319A>G	ENSP00000416738.3:p.Met1107Val
ENST00000673696.1:n.812A>G
ENST00000673772.1:c.3337A>G	ENSP00000501168.1:p.Met1113Val
ENST00000673867.1:n.3710A>G
ENST00000673923.1:n.437A>G
ENST00000674147.1:c.2506A>G	ENSP00000500964.1:p.Met836Val
ENST00000242839.8:c.3571A>G	ENSP00000242839.4:p.Met1191Val
ENST00000344297.8:c.2950A>G	ENSP00000342559.5:p.Met984Val
ENST00000400366.5:c.3238A>G	ENSP00000383217.3:p.Met1080Val
ENST00000400370.8:c.2281A>G	ENSP00000383221.3:p.Met761Val
ENST00000418097.7:c.3376A>G	ENSP00000393343.2:p.Met1126Val
ENST00000448424.6:c.3337A>G	ENSP00000416738.2:p.Met1113Val
ENST00000634296.1:c.1349A>G
ENST00000634308.1:c.*672A>G	ENSP00000489234.1:n.*672A>G
ENST00000634620.1:n.4315A>G
ENST00000634810.1:n.2916A>G
ENST00000634844.1:c.3427A>G	ENSP00000489398.1:p.Met1143Val
NM_000053.3:c.3571A>G	NP_000044.2:p.Met1191Val
NM_001005918.2:c.2950A>G	NP_001005918.1:p.Met984Val
NM_001243182.1:c.3238A>G	NP_001230111.1:p.Met1080Val
XM_005266423.2:c.3475A>G	XP_005266480.1:p.Met1159Val
XM_005266424.3:c.3475A>G	XP_005266481.1:p.Met1159Val
XM_005266427.2:c.3337A>G	XP_005266484.1:p.Met1113Val
XM_005266428.1:c.3319A>G	XP_005266485.1:p.Met1107Val
XM_005266430.3:c.3571A>G	XP_005266487.1:p.Met1191Val
XM_005266431.2:c.3535A>G	XP_005266488.1:p.Met1179Val
XM_005266432.2:c.3085A>G	XP_005266489.1:p.Met1029Val
XM_006719837.2:c.3475A>G	XP_006719900.1:p.Met1159Val
XM_006719838.1:c.1387A>G	XP_006719901.1:p.Met463Val
XM_006719839.1:c.1204A>G	XP_006719902.1:p.Met402Val
XM_011535117.1:c.3475A>G	XP_011533419.1:p.Met1159Val
XM_011535118.1:c.3436A>G	XP_011533420.1:p.Met1146Val
XM_011535119.1:c.3388A>G	XP_011533421.1:p.Met1130Val
XM_011535120.1:c.3157A>G	XP_011533422.1:p.Met1053Val
XM_011535121.1:c.3058A>G	XP_011533423.1:p.Met1020Val
XM_011535122.1:c.2239A>G	XP_011533424.1:p.Met747Val
XR_941601.1:n.3790A>G
XR_941602.1:n.3790A>G
XR_941603.1:n.3790A>G
XR_941604.1:n.3790A>G
NM_001330578.1:c.3337A>G	NP_001317507.1:p.Met1113Val
NM_001330579.1:c.3319A>G	NP_001317508.1:p.Met1107Val
XM_005266424.4:c.3475A>G	XP_005266481.1:p.Met1159Val
XM_005266430.4:c.3571A>G	XP_005266487.1:p.Met1191Val
XM_005266431.4:c.3535A>G	XP_005266488.1:p.Met1179Val
XM_006719837.3:c.3475A>G	XP_006719900.1:p.Met1159Val
XM_011535117.3:c.3475A>G	XP_011533419.1:p.Met1159Val
XM_017020627.1:c.3475A>G	XP_016876116.1:p.Met1159Val
NM_000053.4:c.3571A>G MANE Select	NP_000044.2:p.Met1191Val
NM_001005918.3:c.2950A>G	NP_001005918.1:p.Met984Val
NM_001330579.2:c.3319A>G	NP_001317508.1:p.Met1107Val
NM_001243182.2:c.3238A>G	NP_001230111.1:p.Met1080Val
NM_001330578.2:c.3337A>G	NP_001317507.1:p.Met1113Val