Canonical Allele Identifier: CA373274242

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34637068G>T , CM000671.2:g.34637068G>T	GRCh38
NC_000009.11:g.34637065G>T , CM000671.1:g.34637065G>T	GRCh37
NC_000009.10:g.34627065G>T	NCBI36
NG_029945.2:g.5704C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.374C>A MANE Select	NP_005857.1:p.Ser125Ter
ENST00000277010.9:c.374C>A MANE Select	ENSP00000277010.4:p.Ser125Ter
NM_001282205.1:c.374C>A	NP_001269134.1:p.Ser125Ter
NM_001282205.2:c.374C>A	NP_001269134.1:p.Ser125Ter
NM_001282206.1:c.74C>A	NP_001269135.1:p.Ser25Ter
NM_001282206.2:c.74C>A	NP_001269135.1:p.Ser25Ter
NM_001282207.1:c.314C>A	NP_001269136.1:p.Ser105Ter
NM_001282207.2:c.314C>A	NP_001269136.1:p.Ser105Ter
NM_001282208.1:c.397C>A	NP_001269137.1:p.Arg133=
NM_001282208.2:c.397C>A	NP_001269137.1:p.Arg133=
NM_001282209.1:c.305+199C>A	NP_001269138.1:n.305+199C>A
NM_001282209.2:c.305+199C>A	NP_001269138.1:n.305+199C>A
NM_005866.3:c.374C>A	NP_005857.1:p.Ser125Ter
NM_147157.2:c.352+152C>A	NP_671513.1:n.352+152C>A
NM_147157.3:c.352+152C>A	NP_671513.1:n.352+152C>A
NR_104108.1:n.390C>A
NR_104108.2:n.351C>A
ENST00000277010.8:c.374C>A	ENSP00000277010.4:p.Ser125Ter
ENST00000353468.4:c.*6C>A	ENSP00000434453.1:n.*6C>A
ENST00000378892.5:c.107C>A	ENSP00000368170.1:p.Ser36Ter
ENST00000461426.1:n.577+152C>A
ENST00000477726.1:c.352+152C>A	ENSP00000420022.1:n.352+152C>A
ENST00000478146.1:n.168C>A
ENST00000497006.1:n.490C>A
ENST00000497006.2:n.651C>A
ENST00000679597.1:c.314C>A	ENSP00000505634.1:p.Ser105Ter
ENST00000680104.1:c.374C>A	ENSP00000505949.1:p.Ser125Ter
ENST00000680244.1:c.374C>A	ENSP00000505305.1:p.Ser125Ter
ENST00000680277.1:c.397C>A	ENSP00000505742.1:p.Arg133=
ENST00000680730.1:c.305+199C>A	ENSP00000505588.1:n.305+199C>A
ENST00000681409.1:n.623C>A
XM_011517674.1:c.350C>A	XP_011515976.1:p.Ser117Ter