Canonical Allele Identifier: CA275931

Gene: SIGMAR1

Linked Data

• ClinVar Variation Id: 208122
• ClinVar RCV Id: RCV000190342 ; RCV001721241 ; RCV001515374 ; RCV001807120
• dbSNP Id: rs4879809
• ExAC: 9:34635598 T / C
• gnomAD v2: 9-34635598-T-C
• gnomAD v3: 9-34635601-T-C
• gnomAD v4: 9-34635601-T-C
• MyVariant Identifiers: chr9:g.34635598T>C (hg19) ; chr9:g.34635601T>C (hg38)
• PubMed: PMID:26205306

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635601T>C , CM000671.2:g.34635601T>C	GRCh38
NC_000009.11:g.34635598T>C , CM000671.1:g.34635598T>C	GRCh37
NC_000009.10:g.34625598T>C	NCBI36
NG_029945.2:g.7171A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277010.9:c.*31A>G MANE Select	ENSP00000277010.4:n.*31A>G
ENST00000497006.2:n.980A>G
ENST00000679597.1:c.*31A>G	ENSP00000505634.1:n.*31A>G
ENST00000680104.1:c.*873A>G	ENSP00000505949.1:n.*873A>G
ENST00000680244.1:c.*17A>G	ENSP00000505305.1:n.*17A>G
ENST00000680730.1:c.*230A>G	ENSP00000505588.1:n.*230A>G
ENST00000681409.1:n.2090A>G
ENST00000277010.8:c.*31A>G	ENSP00000277010.4:n.*31A>G
ENST00000353468.4:c.*335A>G	ENSP00000434453.1:n.*335A>G
ENST00000378892.5:c.*31A>G	ENSP00000368170.1:n.*31A>G
ENST00000461426.1:n.835A>G
ENST00000477726.1:c.*31A>G	ENSP00000420022.1:n.*31A>G
NM_001282205.1:c.*17A>G	NP_001269134.1:n.*17A>G
NM_001282206.1:c.*31A>G	NP_001269135.1:n.*31A>G
NM_001282207.1:c.*31A>G	NP_001269136.1:n.*31A>G
NM_001282208.1:c.*246A>G	NP_001269137.1:n.*246A>G
NM_001282209.1:c.*230A>G	NP_001269138.1:n.*230A>G
NM_005866.3:c.*31A>G	NP_005857.1:n.*31A>G
NM_147157.2:c.*31A>G	NP_671513.1:n.*31A>G
NR_104108.1:n.719A>G
XM_011517674.1:c.*31A>G	XP_011515976.1:n.*31A>G
NM_005866.4:c.*31A>G MANE Select	NP_005857.1:n.*31A>G
NM_001282205.2:c.*17A>G	NP_001269134.1:n.*17A>G
NM_001282206.2:c.*31A>G	NP_001269135.1:n.*31A>G
NM_001282207.2:c.*31A>G	NP_001269136.1:n.*31A>G
NM_001282208.2:c.*246A>G	NP_001269137.1:n.*246A>G
NM_001282209.2:c.*230A>G	NP_001269138.1:n.*230A>G
NM_147157.3:c.*31A>G	NP_671513.1:n.*31A>G
NR_104108.2:n.680A>G