Canonical Allele Identifier: CA373272883

Gene: SIGMAR1

Linked Data

• dbSNP Id: rs200076129
• gnomAD v3: 9-34635841-C-G
• gnomAD v4: 9-34635841-C-G
• MyVariant Identifiers: chr9:g.34635838C>G (hg19) ; chr9:g.34635841C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635841C>G , CM000671.2:g.34635841C>G	GRCh38
NC_000009.11:g.34635838C>G , CM000671.1:g.34635838C>G	GRCh37
NC_000009.10:g.34625838C>G	NCBI36
NG_029945.2:g.6931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000277010.9:c.463G>C MANE Select	ENSP00000277010.4:p.Gly155Arg
ENST00000497006.2:n.740G>C
ENST00000679597.1:c.403G>C	ENSP00000505634.1:p.Gly135Arg
ENST00000680104.1:c.*633G>C	ENSP00000505949.1:n.*633G>C
ENST00000680244.1:c.446-201G>C	ENSP00000505305.1:n.446-201G>C
ENST00000680277.1:c.*6G>C	ENSP00000505742.1:n.*6G>C
ENST00000680730.1:c.323G>C	ENSP00000505588.1:p.Arg108Pro
ENST00000681409.1:n.1850G>C
ENST00000277010.8:c.463G>C	ENSP00000277010.4:p.Gly155Arg
ENST00000353468.4:c.*95G>C	ENSP00000434453.1:n.*95G>C
ENST00000378892.5:c.196G>C	ENSP00000368170.1:p.Gly66Arg
ENST00000461426.1:n.595G>C
ENST00000477726.1:c.370G>C	ENSP00000420022.1:p.Gly124Arg
ENST00000497006.1:n.579G>C
NM_001282205.1:c.446-201G>C	NP_001269134.1:n.446-201G>C
NM_001282206.1:c.163G>C	NP_001269135.1:p.Gly55Arg
NM_001282207.1:c.403G>C	NP_001269136.1:p.Gly135Arg
NM_001282208.1:c.*6G>C	NP_001269137.1:n.*6G>C
NM_001282209.1:c.323G>C	NP_001269138.1:p.Arg108Pro
NM_005866.3:c.463G>C	NP_005857.1:p.Gly155Arg
NM_147157.2:c.370G>C	NP_671513.1:p.Gly124Arg
NR_104108.1:n.479G>C
XM_011517674.1:c.439G>C	XP_011515976.1:p.Gly147Arg
NM_005866.4:c.463G>C MANE Select	NP_005857.1:p.Gly155Arg
NM_001282205.2:c.446-201G>C	NP_001269134.1:n.446-201G>C
NM_001282206.2:c.163G>C	NP_001269135.1:p.Gly55Arg
NM_001282207.2:c.403G>C	NP_001269136.1:p.Gly135Arg
NM_001282208.2:c.*6G>C	NP_001269137.1:n.*6G>C
NM_001282209.2:c.323G>C	NP_001269138.1:p.Arg108Pro
NM_147157.3:c.370G>C	NP_671513.1:p.Gly124Arg
NR_104108.2:n.440G>C