Canonical Allele Identifier: CA5035823

Gene: SIGMAR1

Linked Data

• ClinVar Variation Id: 465871
• ClinVar RCV Id: RCV000531796 ; RCV001662556 ; RCV001722482
• dbSNP Id: rs11559048
• ExAC: 9:34635679 G / A
• gnomAD v2: 9-34635679-G-A
• gnomAD v3: 9-34635682-G-A
• gnomAD v4: 9-34635682-G-A
• MyVariant Identifiers: chr9:g.34635679G>A (hg19) ; chr9:g.34635682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635682G>A , CM000671.2:g.34635682G>A	GRCh38
NC_000009.11:g.34635679G>A , CM000671.1:g.34635679G>A	GRCh37
NC_000009.10:g.34625679G>A	NCBI36
NG_029945.2:g.7090C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000277010.9:c.622C>T MANE Select	ENSP00000277010.4:p.Arg208Trp
ENST00000497006.2:n.899C>T
ENST00000679597.1:c.562C>T	ENSP00000505634.1:p.Arg188Trp
ENST00000680104.1:c.*792C>T	ENSP00000505949.1:n.*792C>T
ENST00000680244.1:c.446-42C>T	ENSP00000505305.1:n.446-42C>T
ENST00000680730.1:c.*149C>T	ENSP00000505588.1:n.*149C>T
ENST00000681409.1:n.2009C>T
ENST00000277010.8:c.622C>T	ENSP00000277010.4:p.Arg208Trp
ENST00000353468.4:c.*254C>T	ENSP00000434453.1:n.*254C>T
ENST00000378892.5:c.355C>T	ENSP00000368170.1:p.Arg119Trp
ENST00000461426.1:n.754C>T
ENST00000477726.1:c.529C>T	ENSP00000420022.1:p.Arg177Trp
NM_001282205.1:c.446-42C>T	NP_001269134.1:n.446-42C>T
NM_001282206.1:c.322C>T	NP_001269135.1:p.Arg108Trp
NM_001282207.1:c.562C>T	NP_001269136.1:p.Arg188Trp
NM_001282208.1:c.*165C>T	NP_001269137.1:n.*165C>T
NM_001282209.1:c.*149C>T	NP_001269138.1:n.*149C>T
NM_005866.3:c.622C>T	NP_005857.1:p.Arg208Trp
NM_147157.2:c.529C>T	NP_671513.1:p.Arg177Trp
NR_104108.1:n.638C>T
XM_011517674.1:c.598C>T	XP_011515976.1:p.Arg200Trp
NM_005866.4:c.622C>T MANE Select	NP_005857.1:p.Arg208Trp
NM_001282205.2:c.446-42C>T	NP_001269134.1:n.446-42C>T
NM_001282206.2:c.322C>T	NP_001269135.1:p.Arg108Trp
NM_001282207.2:c.562C>T	NP_001269136.1:p.Arg188Trp
NM_001282208.2:c.*165C>T	NP_001269137.1:n.*165C>T
NM_001282209.2:c.*149C>T	NP_001269138.1:n.*149C>T
NM_147157.3:c.529C>T	NP_671513.1:p.Arg177Trp
NR_104108.2:n.599C>T