Canonical Allele Identifier: CA388026288

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515267A>T (hg19) ; chr13:g.51941131A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1156T>A	ENSP00000489512.2:n.*1156T>A
ENST00000673864.2:c.*2250T>A	ENSP00000501045.2:n.*2250T>A
ENST00000674147.2:c.2885T>A	ENSP00000500964.2:p.Met962Lys
ENST00000242839.10:c.3506T>A MANE Select	ENSP00000242839.5:p.Met1169Lys
ENST00000344297.9:c.2885T>A	ENSP00000342559.5:p.Met962Lys
ENST00000400366.6:c.3173T>A	ENSP00000383217.3:p.Met1058Lys
ENST00000448424.7:c.3254T>A	ENSP00000416738.3:p.Met1085Lys
ENST00000673772.1:c.3272T>A	ENSP00000501168.1:p.Met1091Lys
ENST00000673867.1:n.3645T>A
ENST00000674126.1:n.3869T>A
ENST00000674147.1:c.2441T>A	ENSP00000500964.1:p.Met814Lys
ENST00000242839.8:c.3506T>A	ENSP00000242839.4:p.Met1169Lys
ENST00000344297.8:c.2885T>A	ENSP00000342559.5:p.Met962Lys
ENST00000400366.5:c.3173T>A	ENSP00000383217.3:p.Met1058Lys
ENST00000400370.8:c.2216T>A	ENSP00000383221.3:p.Met739Lys
ENST00000418097.7:c.3311T>A	ENSP00000393343.2:p.Met1104Lys
ENST00000448424.6:c.3272T>A	ENSP00000416738.2:p.Met1091Lys
ENST00000634296.1:c.1284T>A
ENST00000634308.1:c.*607T>A	ENSP00000489234.1:n.*607T>A
ENST00000634620.1:n.4250T>A
ENST00000634810.1:n.2851T>A
ENST00000634844.1:c.3362T>A	ENSP00000489398.1:p.Met1121Lys
NM_000053.3:c.3506T>A	NP_000044.2:p.Met1169Lys
NM_001005918.2:c.2885T>A	NP_001005918.1:p.Met962Lys
NM_001243182.1:c.3173T>A	NP_001230111.1:p.Met1058Lys
XM_005266423.2:c.3410T>A	XP_005266480.1:p.Met1137Lys
XM_005266424.3:c.3410T>A	XP_005266481.1:p.Met1137Lys
XM_005266427.2:c.3272T>A	XP_005266484.1:p.Met1091Lys
XM_005266428.1:c.3254T>A	XP_005266485.1:p.Met1085Lys
XM_005266430.3:c.3506T>A	XP_005266487.1:p.Met1169Lys
XM_005266431.2:c.3470T>A	XP_005266488.1:p.Met1157Lys
XM_005266432.2:c.3020T>A	XP_005266489.1:p.Met1007Lys
XM_006719837.2:c.3410T>A	XP_006719900.1:p.Met1137Lys
XM_006719838.1:c.1322T>A	XP_006719901.1:p.Met441Lys
XM_006719839.1:c.1139T>A	XP_006719902.1:p.Met380Lys
XM_011535117.1:c.3410T>A	XP_011533419.1:p.Met1137Lys
XM_011535118.1:c.3371T>A	XP_011533420.1:p.Met1124Lys
XM_011535119.1:c.3323T>A	XP_011533421.1:p.Met1108Lys
XM_011535120.1:c.3092T>A	XP_011533422.1:p.Met1031Lys
XM_011535121.1:c.2993T>A	XP_011533423.1:p.Met998Lys
XM_011535122.1:c.2174T>A	XP_011533424.1:p.Met725Lys
XR_941601.1:n.3725T>A
XR_941602.1:n.3725T>A
XR_941603.1:n.3725T>A
XR_941604.1:n.3725T>A
NM_001330578.1:c.3272T>A	NP_001317507.1:p.Met1091Lys
NM_001330579.1:c.3254T>A	NP_001317508.1:p.Met1085Lys
XM_005266424.4:c.3410T>A	XP_005266481.1:p.Met1137Lys
XM_005266430.4:c.3506T>A	XP_005266487.1:p.Met1169Lys
XM_005266431.4:c.3470T>A	XP_005266488.1:p.Met1157Lys
XM_006719837.3:c.3410T>A	XP_006719900.1:p.Met1137Lys
XM_011535117.3:c.3410T>A	XP_011533419.1:p.Met1137Lys
XM_017020627.1:c.3410T>A	XP_016876116.1:p.Met1137Lys
NM_000053.4:c.3506T>A MANE Select	NP_000044.2:p.Met1169Lys
NM_001005918.3:c.2885T>A	NP_001005918.1:p.Met962Lys
NM_001330579.2:c.3254T>A	NP_001317508.1:p.Met1085Lys
NM_001243182.2:c.3173T>A	NP_001230111.1:p.Met1058Lys
NM_001330578.2:c.3272T>A	NP_001317507.1:p.Met1091Lys