Canonical Allele Identifier: CA386127297

Gene: ATP2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89634849T>C , CM000674.2:g.89634849T>C	GRCh38
NC_000012.11:g.90028626T>C , CM000674.1:g.90028626T>C	GRCh37
NC_000012.10:g.88552757T>C	NCBI36
NG_029485.1:g.26219A>G
NG_029485.2:g.79505A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001366521.1:c.716A>G MANE Select	NP_001353450.1:p.Asp239Gly
ENST00000428670.8:c.716A>G MANE Select	ENSP00000392043.3:p.Asp239Gly
NM_001001323.1:c.716A>G	NP_001001323.1:p.Asp239Gly
NM_001001323.2:c.716A>G	NP_001001323.1:p.Asp239Gly
NM_001366520.1:c.716A>G	NP_001353449.1:p.Asp239Gly
NM_001366522.1:c.716A>G	NP_001353451.1:p.Asp239Gly
NM_001366523.1:c.716A>G	NP_001353452.1:p.Asp239Gly
NM_001366524.1:c.716A>G	NP_001353453.1:p.Asp239Gly
NM_001366525.1:c.716A>G	NP_001353454.1:p.Asp239Gly
NM_001366526.1:c.716A>G	NP_001353455.1:p.Asp239Gly
NM_001366527.1:c.716A>G	NP_001353456.1:p.Asp239Gly
NM_001366528.1:c.716A>G	NP_001353457.1:p.Asp239Gly
NM_001366529.1:c.716A>G	NP_001353458.1:p.Asp239Gly
NM_001366530.1:c.518A>G	NP_001353459.1:p.Asp173Gly
NM_001366531.1:c.406+7309A>G	NP_001353460.1:n.406+7309A>G
NM_001366532.1:c.406+7309A>G	NP_001353461.1:n.406+7309A>G
NM_001682.2:c.716A>G	NP_001673.2:p.Asp239Gly
NM_001682.3:c.716A>G	NP_001673.2:p.Asp239Gly
ENST00000261173.6:c.716A>G	ENSP00000261173.2:p.Asp239Gly
ENST00000359142.7:c.716A>G	ENSP00000352054.3:p.Asp239Gly
ENST00000359142.8:c.716A>G	ENSP00000352054.3:p.Asp239Gly
ENST00000428670.7:c.716A>G	ENSP00000392043.3:p.Asp239Gly
ENST00000551310.2:c.716A>G	ENSP00000447041.2:p.Asp239Gly
ENST00000705786.1:c.716A>G	ENSP00000516170.1:p.Asp239Gly
ENST00000705822.1:c.716A>G	ENSP00000516172.1:p.Asp239Gly
XM_005268919.1:c.716A>G	XP_005268976.1:p.Asp239Gly
XM_011538407.1:c.716A>G	XP_011536709.1:p.Asp239Gly
XM_011538408.1:c.716A>G	XP_011536710.1:p.Asp239Gly
XM_011538409.1:c.716A>G	XP_011536711.1:p.Asp239Gly
XM_011538410.1:c.716A>G	XP_011536712.1:p.Asp239Gly
XM_011538411.1:c.716A>G	XP_011536713.1:p.Asp239Gly
XM_011538412.1:c.716A>G	XP_011536714.1:p.Asp239Gly
XM_017019357.2:c.716A>G	XP_016874846.1:p.Asp239Gly
XM_024448991.1:c.716A>G	XP_024304759.1:p.Asp239Gly
XM_024448993.1:c.716A>G	XP_024304761.1:p.Asp239Gly
XR_002957330.1:n.1178A>G
XR_944556.1:n.1178A>G