Canonical Allele Identifier: CA6988666

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1396704
• ClinVar RCV Id: RCV001920029
• dbSNP Id: rs750407028
• ExAC: 13:52515253 T / C
• gnomAD v2: 13-52515253-T-C
• gnomAD v4: 13-51941117-T-C
• MyVariant Identifiers: chr13:g.52515253T>C (hg19) ; chr13:g.51941117T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941117T>C , CM000675.2:g.51941117T>C	GRCh38
NC_000013.10:g.52515253T>C , CM000675.1:g.52515253T>C	GRCh37
NC_000013.9:g.51413254T>C	NCBI36
NG_008806.1:g.75378A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1170A>G	ENSP00000489512.2:n.*1170A>G
ENST00000673864.2:c.*2264A>G	ENSP00000501045.2:n.*2264A>G
ENST00000674147.2:c.2899A>G	ENSP00000500964.2:p.Met967Val
ENST00000242839.10:c.3520A>G MANE Select	ENSP00000242839.5:p.Met1174Val
ENST00000344297.9:c.2899A>G	ENSP00000342559.5:p.Met967Val
ENST00000400366.6:c.3187A>G	ENSP00000383217.3:p.Met1063Val
ENST00000448424.7:c.3268A>G	ENSP00000416738.3:p.Met1090Val
ENST00000673772.1:c.3286A>G	ENSP00000501168.1:p.Met1096Val
ENST00000673867.1:n.3659A>G
ENST00000674126.1:n.3883A>G
ENST00000674147.1:c.2455A>G	ENSP00000500964.1:p.Met819Val
ENST00000242839.8:c.3520A>G	ENSP00000242839.4:p.Met1174Val
ENST00000344297.8:c.2899A>G	ENSP00000342559.5:p.Met967Val
ENST00000400366.5:c.3187A>G	ENSP00000383217.3:p.Met1063Val
ENST00000400370.8:c.2230A>G	ENSP00000383221.3:p.Met744Val
ENST00000418097.7:c.3325A>G	ENSP00000393343.2:p.Met1109Val
ENST00000448424.6:c.3286A>G	ENSP00000416738.2:p.Met1096Val
ENST00000634296.1:c.1298A>G
ENST00000634308.1:c.*621A>G	ENSP00000489234.1:n.*621A>G
ENST00000634620.1:n.4264A>G
ENST00000634810.1:n.2865A>G
ENST00000634844.1:c.3376A>G	ENSP00000489398.1:p.Met1126Val
NM_000053.3:c.3520A>G	NP_000044.2:p.Met1174Val
NM_001005918.2:c.2899A>G	NP_001005918.1:p.Met967Val
NM_001243182.1:c.3187A>G	NP_001230111.1:p.Met1063Val
XM_005266423.2:c.3424A>G	XP_005266480.1:p.Met1142Val
XM_005266424.3:c.3424A>G	XP_005266481.1:p.Met1142Val
XM_005266427.2:c.3286A>G	XP_005266484.1:p.Met1096Val
XM_005266428.1:c.3268A>G	XP_005266485.1:p.Met1090Val
XM_005266430.3:c.3520A>G	XP_005266487.1:p.Met1174Val
XM_005266431.2:c.3484A>G	XP_005266488.1:p.Met1162Val
XM_005266432.2:c.3034A>G	XP_005266489.1:p.Met1012Val
XM_006719837.2:c.3424A>G	XP_006719900.1:p.Met1142Val
XM_006719838.1:c.1336A>G	XP_006719901.1:p.Met446Val
XM_006719839.1:c.1153A>G	XP_006719902.1:p.Met385Val
XM_011535117.1:c.3424A>G	XP_011533419.1:p.Met1142Val
XM_011535118.1:c.3385A>G	XP_011533420.1:p.Met1129Val
XM_011535119.1:c.3337A>G	XP_011533421.1:p.Met1113Val
XM_011535120.1:c.3106A>G	XP_011533422.1:p.Met1036Val
XM_011535121.1:c.3007A>G	XP_011533423.1:p.Met1003Val
XM_011535122.1:c.2188A>G	XP_011533424.1:p.Met730Val
XR_941601.1:n.3739A>G
XR_941602.1:n.3739A>G
XR_941603.1:n.3739A>G
XR_941604.1:n.3739A>G
NM_001330578.1:c.3286A>G	NP_001317507.1:p.Met1096Val
NM_001330579.1:c.3268A>G	NP_001317508.1:p.Met1090Val
XM_005266424.4:c.3424A>G	XP_005266481.1:p.Met1142Val
XM_005266430.4:c.3520A>G	XP_005266487.1:p.Met1174Val
XM_005266431.4:c.3484A>G	XP_005266488.1:p.Met1162Val
XM_006719837.3:c.3424A>G	XP_006719900.1:p.Met1142Val
XM_011535117.3:c.3424A>G	XP_011533419.1:p.Met1142Val
XM_017020627.1:c.3424A>G	XP_016876116.1:p.Met1142Val
NM_000053.4:c.3520A>G MANE Select	NP_000044.2:p.Met1174Val
NM_001005918.3:c.2899A>G	NP_001005918.1:p.Met967Val
NM_001330579.2:c.3268A>G	NP_001317508.1:p.Met1090Val
NM_001243182.2:c.3187A>G	NP_001230111.1:p.Met1063Val
NM_001330578.2:c.3286A>G	NP_001317507.1:p.Met1096Val