Canonical Allele Identifier: CA388026285

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 557466
• ClinVar RCV Id: RCV000673614
• dbSNP Id: rs1555285311
• MyVariant Identifiers: chr13:g.52515267A>G (hg19) ; chr13:g.51941131A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941131A>G , CM000675.2:g.51941131A>G	GRCh38
NC_000013.10:g.52515267A>G , CM000675.1:g.52515267A>G	GRCh37
NC_000013.9:g.51413268A>G	NCBI36
NG_008806.1:g.75364T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1156T>C	ENSP00000489512.2:n.*1156T>C
ENST00000673864.2:c.*2250T>C	ENSP00000501045.2:n.*2250T>C
ENST00000674147.2:c.2885T>C	ENSP00000500964.2:p.Met962Thr
ENST00000242839.10:c.3506T>C MANE Select	ENSP00000242839.5:p.Met1169Thr
ENST00000344297.9:c.2885T>C	ENSP00000342559.5:p.Met962Thr
ENST00000400366.6:c.3173T>C	ENSP00000383217.3:p.Met1058Thr
ENST00000448424.7:c.3254T>C	ENSP00000416738.3:p.Met1085Thr
ENST00000673772.1:c.3272T>C	ENSP00000501168.1:p.Met1091Thr
ENST00000673867.1:n.3645T>C
ENST00000674126.1:n.3869T>C
ENST00000674147.1:c.2441T>C	ENSP00000500964.1:p.Met814Thr
ENST00000242839.8:c.3506T>C	ENSP00000242839.4:p.Met1169Thr
ENST00000344297.8:c.2885T>C	ENSP00000342559.5:p.Met962Thr
ENST00000400366.5:c.3173T>C	ENSP00000383217.3:p.Met1058Thr
ENST00000400370.8:c.2216T>C	ENSP00000383221.3:p.Met739Thr
ENST00000418097.7:c.3311T>C	ENSP00000393343.2:p.Met1104Thr
ENST00000448424.6:c.3272T>C	ENSP00000416738.2:p.Met1091Thr
ENST00000634296.1:c.1284T>C
ENST00000634308.1:c.*607T>C	ENSP00000489234.1:n.*607T>C
ENST00000634620.1:n.4250T>C
ENST00000634810.1:n.2851T>C
ENST00000634844.1:c.3362T>C	ENSP00000489398.1:p.Met1121Thr
NM_000053.3:c.3506T>C	NP_000044.2:p.Met1169Thr
NM_001005918.2:c.2885T>C	NP_001005918.1:p.Met962Thr
NM_001243182.1:c.3173T>C	NP_001230111.1:p.Met1058Thr
XM_005266423.2:c.3410T>C	XP_005266480.1:p.Met1137Thr
XM_005266424.3:c.3410T>C	XP_005266481.1:p.Met1137Thr
XM_005266427.2:c.3272T>C	XP_005266484.1:p.Met1091Thr
XM_005266428.1:c.3254T>C	XP_005266485.1:p.Met1085Thr
XM_005266430.3:c.3506T>C	XP_005266487.1:p.Met1169Thr
XM_005266431.2:c.3470T>C	XP_005266488.1:p.Met1157Thr
XM_005266432.2:c.3020T>C	XP_005266489.1:p.Met1007Thr
XM_006719837.2:c.3410T>C	XP_006719900.1:p.Met1137Thr
XM_006719838.1:c.1322T>C	XP_006719901.1:p.Met441Thr
XM_006719839.1:c.1139T>C	XP_006719902.1:p.Met380Thr
XM_011535117.1:c.3410T>C	XP_011533419.1:p.Met1137Thr
XM_011535118.1:c.3371T>C	XP_011533420.1:p.Met1124Thr
XM_011535119.1:c.3323T>C	XP_011533421.1:p.Met1108Thr
XM_011535120.1:c.3092T>C	XP_011533422.1:p.Met1031Thr
XM_011535121.1:c.2993T>C	XP_011533423.1:p.Met998Thr
XM_011535122.1:c.2174T>C	XP_011533424.1:p.Met725Thr
XR_941601.1:n.3725T>C
XR_941602.1:n.3725T>C
XR_941603.1:n.3725T>C
XR_941604.1:n.3725T>C
NM_001330578.1:c.3272T>C	NP_001317507.1:p.Met1091Thr
NM_001330579.1:c.3254T>C	NP_001317508.1:p.Met1085Thr
XM_005266424.4:c.3410T>C	XP_005266481.1:p.Met1137Thr
XM_005266430.4:c.3506T>C	XP_005266487.1:p.Met1169Thr
XM_005266431.4:c.3470T>C	XP_005266488.1:p.Met1157Thr
XM_006719837.3:c.3410T>C	XP_006719900.1:p.Met1137Thr
XM_011535117.3:c.3410T>C	XP_011533419.1:p.Met1137Thr
XM_017020627.1:c.3410T>C	XP_016876116.1:p.Met1137Thr
NM_000053.4:c.3506T>C MANE Select	NP_000044.2:p.Met1169Thr
NM_001005918.3:c.2885T>C	NP_001005918.1:p.Met962Thr
NM_001330579.2:c.3254T>C	NP_001317508.1:p.Met1085Thr
NM_001243182.2:c.3173T>C	NP_001230111.1:p.Met1058Thr
NM_001330578.2:c.3272T>C	NP_001317507.1:p.Met1091Thr