Canonical Allele Identifier: CA373272940

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635853T>C , CM000671.2:g.34635853T>C	GRCh38
NC_000009.11:g.34635850T>C , CM000671.1:g.34635850T>C	GRCh37
NC_000009.10:g.34625850T>C	NCBI36
NG_029945.2:g.6919A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.451A>G MANE Select	NP_005857.1:p.Thr151Ala
ENST00000277010.9:c.451A>G MANE Select	ENSP00000277010.4:p.Thr151Ala
NM_001282205.1:c.446-213A>G	NP_001269134.1:n.446-213A>G
NM_001282205.2:c.446-213A>G	NP_001269134.1:n.446-213A>G
NM_001282206.1:c.151A>G	NP_001269135.1:p.Thr51Ala
NM_001282206.2:c.151A>G	NP_001269135.1:p.Thr51Ala
NM_001282207.1:c.391A>G	NP_001269136.1:p.Thr131Ala
NM_001282207.2:c.391A>G	NP_001269136.1:p.Thr131Ala
NM_001282208.1:c.474A>G	NP_001269137.1:p.Arg158=
NM_001282208.2:c.474A>G	NP_001269137.1:p.Arg158=
NM_001282209.1:c.311A>G	NP_001269138.1:p.Asp104Gly
NM_001282209.2:c.311A>G	NP_001269138.1:p.Asp104Gly
NM_005866.3:c.451A>G	NP_005857.1:p.Thr151Ala
NM_147157.2:c.358A>G	NP_671513.1:p.Thr120Ala
NM_147157.3:c.358A>G	NP_671513.1:p.Thr120Ala
NR_104108.1:n.467A>G
NR_104108.2:n.428A>G
ENST00000277010.8:c.451A>G	ENSP00000277010.4:p.Thr151Ala
ENST00000353468.4:c.*83A>G	ENSP00000434453.1:n.*83A>G
ENST00000378892.5:c.184A>G	ENSP00000368170.1:p.Thr62Ala
ENST00000461426.1:n.583A>G
ENST00000477726.1:c.358A>G	ENSP00000420022.1:p.Thr120Ala
ENST00000497006.1:n.567A>G
ENST00000497006.2:n.728A>G
ENST00000679597.1:c.391A>G	ENSP00000505634.1:p.Thr131Ala
ENST00000680104.1:c.*621A>G	ENSP00000505949.1:n.*621A>G
ENST00000680244.1:c.446-213A>G	ENSP00000505305.1:n.446-213A>G
ENST00000680277.1:c.474A>G	ENSP00000505742.1:p.Arg158=
ENST00000680730.1:c.311A>G	ENSP00000505588.1:p.Asp104Gly
ENST00000681409.1:n.1838A>G
XM_011517674.1:c.427A>G	XP_011515976.1:p.Thr143Ala