Canonical Allele Identifier: CA385997890

Gene: ATP2B1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.89591194C>G , CM000674.2:g.89591194C>G	GRCh38
NC_000012.11:g.89984971C>G , CM000674.1:g.89984971C>G	GRCh37
NC_000012.10:g.88509102C>G	NCBI36
NG_029485.1:g.69874G>C
NG_029485.2:g.123160G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001366521.1:c.3453G>C MANE Select	NP_001353450.1:p.Arg1151Ser
ENST00000428670.8:c.3453G>C MANE Select	ENSP00000392043.3:p.Arg1151Ser
NM_001001323.1:c.*76G>C	NP_001001323.1:n.*76G>C
NM_001001323.2:c.*76G>C	NP_001001323.1:n.*76G>C
NM_001366520.1:c.3453G>C	NP_001353449.1:p.Arg1151Ser
NM_001366522.1:c.3453G>C	NP_001353451.1:p.Arg1151Ser
NM_001366523.1:c.*76G>C	NP_001353452.1:n.*76G>C
NM_001366524.1:c.3540G>C	NP_001353453.1:p.Arg1180Ser
NM_001366525.1:c.3540G>C	NP_001353454.1:p.Arg1180Ser
NM_001366526.1:c.*89G>C	NP_001353455.1:n.*89G>C
NM_001366527.1:c.*89G>C	NP_001353456.1:n.*89G>C
NM_001366528.1:c.*76G>C	NP_001353457.1:n.*76G>C
NM_001366529.1:c.*89G>C	NP_001353458.1:n.*89G>C
NM_001366530.1:c.*89G>C	NP_001353459.1:n.*89G>C
NM_001366531.1:c.*76G>C	NP_001353460.1:n.*76G>C
NM_001366532.1:c.*76G>C	NP_001353461.1:n.*76G>C
NM_001682.2:c.3453G>C	NP_001673.2:p.Arg1151Ser
NM_001682.3:c.3453G>C	NP_001673.2:p.Arg1151Ser
ENST00000261173.6:c.3453G>C	ENSP00000261173.2:p.Arg1151Ser
ENST00000359142.7:c.*76G>C	ENSP00000352054.3:n.*76G>C
ENST00000359142.8:c.*76G>C	ENSP00000352054.3:n.*76G>C
ENST00000393164.6:c.2682G>C	ENSP00000376869.2:p.Arg894Ser
ENST00000428670.7:c.3453G>C	ENSP00000392043.3:p.Arg1151Ser
ENST00000550716.1:c.395G>C
ENST00000551310.2:c.*76G>C	ENSP00000447041.2:n.*76G>C
ENST00000635033.1:c.692G>C
ENST00000705822.1:c.*89G>C	ENSP00000516172.1:n.*89G>C
XM_005268919.1:c.3540G>C	XP_005268976.1:p.Arg1180Ser
XM_011538407.1:c.3540G>C	XP_011536709.1:p.Arg1180Ser
XM_011538408.1:c.3453G>C	XP_011536710.1:p.Arg1151Ser
XM_011538409.1:c.3432G>C	XP_011536711.1:p.Arg1144Ser
XM_011538410.1:c.3345G>C	XP_011536712.1:p.Arg1115Ser
XM_011538411.1:c.*76G>C	XP_011536713.1:n.*76G>C
XM_017019357.2:c.3432G>C	XP_016874846.1:p.Arg1144Ser
XM_024448991.1:c.3345G>C	XP_024304759.1:p.Arg1115Ser
XM_024448993.1:c.*76G>C	XP_024304761.1:n.*76G>C
XR_002957330.1:n.3701G>C
XR_429167.2:n.11470-2121C>G
XR_944556.1:n.3701G>C
XR_945172.1:n.11304-2124C>G
XR_945173.1:n.11201-2124C>G
XR_945174.1:n.3671-2121C>G
XR_945175.1:n.11350-2121C>G
XR_945176.1:n.11278-2121C>G
XR_945177.1:n.862-2121C>G