Canonical Allele Identifier: CA259767

Gene: SIGMAR1

Linked Data

• ClinVar Variation Id: 30238
• ClinVar RCV Id: RCV000023162 ; RCV001852015 ; RCV002444439
• dbSNP Id: rs387906829
• gnomAD v4: 9-34637268-C-G
• MyVariant Identifiers: chr9:g.34637265C>G (hg19) ; chr9:g.34637268C>G (hg38)
• PubMed: PMID:21842496 ; PMID:25704016

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000277010.9:c.304G>C MANE Select	ENSP00000277010.4:p.Glu102Gln
ENST00000497006.2:n.451G>C
ENST00000679597.1:c.244G>C	ENSP00000505634.1:p.Glu82Gln
ENST00000680104.1:c.304G>C	ENSP00000505949.1:p.Glu102Gln
ENST00000680244.1:c.304G>C	ENSP00000505305.1:p.Glu102Gln
ENST00000680277.1:c.304G>C	ENSP00000505742.1:p.Glu102Gln
ENST00000680730.1:c.304G>C	ENSP00000505588.1:p.Glu102Gln
ENST00000681409.1:n.423G>C
ENST00000277010.8:c.304G>C	ENSP00000277010.4:p.Glu102Gln
ENST00000353468.4:c.304G>C	ENSP00000434453.1:p.Glu102Gln
ENST00000378892.5:c.37G>C	ENSP00000368170.1:p.Glu13Gln
ENST00000461426.1:n.529G>C
ENST00000477726.1:c.304G>C	ENSP00000420022.1:p.Glu102Gln
ENST00000478146.1:n.145G>C
ENST00000497006.1:n.290G>C
NM_001282205.1:c.304G>C	NP_001269134.1:p.Glu102Gln
NM_001282206.1:c.51G>C	NP_001269135.1:p.Pro17=
NM_001282207.1:c.244G>C	NP_001269136.1:p.Glu82Gln
NM_001282208.1:c.304G>C	NP_001269137.1:p.Glu102Gln
NM_001282209.1:c.304G>C	NP_001269138.1:p.Glu102Gln
NM_005866.3:c.304G>C	NP_005857.1:p.Glu102Gln
NM_147157.2:c.304G>C	NP_671513.1:p.Glu102Gln
NR_104108.1:n.368+65G>C
XM_011517674.1:c.304G>C	XP_011515976.1:p.Asp102His
NM_005866.4:c.304G>C MANE Select	NP_005857.1:p.Glu102Gln
NM_001282205.2:c.304G>C	NP_001269134.1:p.Glu102Gln
NM_001282206.2:c.51G>C	NP_001269135.1:p.Pro17=
NM_001282207.2:c.244G>C	NP_001269136.1:p.Glu82Gln
NM_001282208.2:c.304G>C	NP_001269137.1:p.Glu102Gln
NM_001282209.2:c.304G>C	NP_001269138.1:p.Glu102Gln
NM_147157.3:c.304G>C	NP_671513.1:p.Glu102Gln
NR_104108.2:n.329+65G>C