Canonical Allele Identifier: CA1845643372

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34637268C= , CM000671.2:g.34637268C=	GRCh38
NC_000009.11:g.34637265C= , CM000671.1:g.34637265C=	GRCh37
NC_000009.10:g.34627265C=	NCBI36
NG_029945.2:g.5504G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277010.9:c.304G= MANE Select	ENSP00000277010.4:p.Glu102=
ENST00000497006.2:n.451G=
ENST00000679597.1:c.244G=	ENSP00000505634.1:p.Glu82=
ENST00000680104.1:c.304G=	ENSP00000505949.1:p.Glu102=
ENST00000680244.1:c.304G=	ENSP00000505305.1:p.Glu102=
ENST00000680277.1:c.304G=	ENSP00000505742.1:p.Glu102=
ENST00000680730.1:c.304G=	ENSP00000505588.1:p.Glu102=
ENST00000681409.1:n.423G=
ENST00000277010.8:c.304G=	ENSP00000277010.4:p.Glu102=
ENST00000353468.4:c.304G=	ENSP00000434453.1:p.Glu102=
ENST00000378892.5:c.37G=	ENSP00000368170.1:p.Glu13=
ENST00000461426.1:n.529G=
ENST00000477726.1:c.304G=	ENSP00000420022.1:p.Glu102=
ENST00000478146.1:n.145G=
ENST00000497006.1:n.290G=
NM_001282205.1:c.304G=	NP_001269134.1:p.Glu102=
NM_001282206.1:c.51G=	NP_001269135.1:p.Pro17=
NM_001282207.1:c.244G=	NP_001269136.1:p.Glu82=
NM_001282208.1:c.304G=	NP_001269137.1:p.Glu102=
NM_001282209.1:c.304G=	NP_001269138.1:p.Glu102=
NM_005866.3:c.304G=	NP_005857.1:p.Glu102=
NM_147157.2:c.304G=	NP_671513.1:p.Glu102=
NR_104108.1:n.368+65G=
XM_011517674.1:c.304G=	XP_011515976.1:p.Asp102=
NM_005866.4:c.304G= MANE Select	NP_005857.1:p.Glu102=
NM_001282205.2:c.304G=	NP_001269134.1:p.Glu102=
NM_001282206.2:c.51G=	NP_001269135.1:p.Pro17=
NM_001282207.2:c.244G=	NP_001269136.1:p.Glu82=
NM_001282208.2:c.304G=	NP_001269137.1:p.Glu102=
NM_001282209.2:c.304G=	NP_001269138.1:p.Glu102=
NM_147157.3:c.304G=	NP_671513.1:p.Glu102=
NR_104108.2:n.329+65G=