Canonical Allele Identifier: CA15748674
Gene: ATP2B1 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs2681472

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.89615182A>G , CM000674.2:g.89615182A>G GRCh38
NC_000012.11:g.90008959A>G , CM000674.1:g.90008959A>G GRCh37
NC_000012.10:g.88533090A>G NCBI36
NG_029485.1:g.45886T>C
NG_029485.2:g.99172T>C

Transcript Alleles

HGVS Amino-acid change
NM_001001323.1:c.2067+1620T>C VV NP_001001323.1:p.=
NM_001682.2:c.2067+1620T>C VV NP_001673.2:p.=
XM_005268919.1:c.2067+1620T>C XP_005268976.1:p.=
XM_011538407.1:c.2067+1620T>C XP_011536709.1:p.=
XM_011538408.1:c.2067+1620T>C XP_011536710.1:p.=
XM_011538409.1:c.2067+1620T>C XP_011536711.1:p.=
XM_011538410.1:c.2067+1620T>C XP_011536712.1:p.=
XM_011538411.1:c.2067+1620T>C XP_011536713.1:p.=
XM_011538412.1:c.2068-1509T>C XP_011536714.1:p.=
XR_944556.1:n.2529+1620T>C
NM_001001323.2:c.2067+1620T>C VV
NM_001366520.1:c.2067+1620T>C VV NP_001353449.1:p.=
NM_001366521.1:c.2067+1620T>C VV NP_001353450.1:p.=
NM_001366522.1:c.2067+1620T>C VV NP_001353451.1:p.=
NM_001366523.1:c.2067+1620T>C VV NP_001353452.1:p.=
NM_001366524.1:c.2067+1620T>C VV NP_001353453.1:p.=
NM_001366525.1:c.2067+1620T>C VV NP_001353454.1:p.=
NM_001366526.1:c.2067+1620T>C VV NP_001353455.1:p.=
NM_001366527.1:c.2067+1620T>C VV NP_001353456.1:p.=
NM_001366528.1:c.2067+1620T>C VV NP_001353457.1:p.=
NM_001366529.1:c.2067+1620T>C VV NP_001353458.1:p.=
NM_001366530.1:c.1869+1620T>C VV NP_001353459.1:p.=
NM_001366531.1:c.1506+1620T>C VV NP_001353460.1:p.=
NM_001366532.1:c.1506+1620T>C VV NP_001353461.1:p.=
NM_001682.3:c.2067+1620T>C VV
XM_017019357.2:c.2067+1620T>C XP_016874846.1:p.=
XM_024448991.1:c.2067+1620T>C XP_024304759.1:p.=
XM_024448993.1:c.2067+1620T>C XP_024304761.1:p.=
XR_002957330.1:n.2529+1620T>C
ENST00000261173.6:c.2067+1620T>C ENSP00000261173.2:p.=
ENST00000359142.7:c.2067+1620T>C ENSP00000352054.3:p.=
ENST00000393164.6:c.1296+1620T>C ENSP00000376869.2:p.=
ENST00000428670.7:c.2067+1620T>C ENSP00000392043.3:p.=