Canonical Allele Identifier: CA373272028

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635667C>T , CM000671.2:g.34635667C>T	GRCh38
NC_000009.11:g.34635664C>T , CM000671.1:g.34635664C>T	GRCh37
NC_000009.10:g.34625664C>T	NCBI36
NG_029945.2:g.7105G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.637G>A MANE Select	NP_005857.1:p.Glu213Lys
ENST00000277010.9:c.637G>A MANE Select	ENSP00000277010.4:p.Glu213Lys
NM_001282205.1:c.446-27G>A	NP_001269134.1:n.446-27G>A
NM_001282205.2:c.446-27G>A	NP_001269134.1:n.446-27G>A
NM_001282206.1:c.337G>A	NP_001269135.1:p.Glu113Lys
NM_001282206.2:c.337G>A	NP_001269135.1:p.Glu113Lys
NM_001282207.1:c.577G>A	NP_001269136.1:p.Glu193Lys
NM_001282207.2:c.577G>A	NP_001269136.1:p.Glu193Lys
NM_001282208.1:c.*180G>A	NP_001269137.1:n.*180G>A
NM_001282208.2:c.*180G>A	NP_001269137.1:n.*180G>A
NM_001282209.1:c.*164G>A	NP_001269138.1:n.*164G>A
NM_001282209.2:c.*164G>A	NP_001269138.1:n.*164G>A
NM_005866.3:c.637G>A	NP_005857.1:p.Glu213Lys
NM_147157.2:c.544G>A	NP_671513.1:p.Glu182Lys
NM_147157.3:c.544G>A	NP_671513.1:p.Glu182Lys
NR_104108.1:n.653G>A
NR_104108.2:n.614G>A
ENST00000277010.8:c.637G>A	ENSP00000277010.4:p.Glu213Lys
ENST00000353468.4:c.*269G>A	ENSP00000434453.1:n.*269G>A
ENST00000378892.5:c.370G>A	ENSP00000368170.1:p.Glu124Lys
ENST00000461426.1:n.769G>A
ENST00000477726.1:c.544G>A	ENSP00000420022.1:p.Glu182Lys
ENST00000497006.2:n.914G>A
ENST00000679597.1:c.577G>A	ENSP00000505634.1:p.Glu193Lys
ENST00000680104.1:c.*807G>A	ENSP00000505949.1:n.*807G>A
ENST00000680244.1:c.446-27G>A	ENSP00000505305.1:n.446-27G>A
ENST00000680730.1:c.*164G>A	ENSP00000505588.1:n.*164G>A
ENST00000681409.1:n.2024G>A
XM_011517674.1:c.613G>A	XP_011515976.1:p.Glu205Lys