Canonical Allele Identifier: CA5035965

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34637693T>G , CM000671.2:g.34637693T>G	GRCh38
NC_000009.11:g.34637690T>G , CM000671.1:g.34637690T>G	GRCh37
NC_000009.10:g.34627690T>G	NCBI36
NG_029945.2:g.5079A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.5A>C MANE Select	NP_005857.1:p.Gln2Pro
ENST00000277010.9:c.5A>C MANE Select	ENSP00000277010.4:p.Gln2Pro
NM_001282205.1:c.5A>C	NP_001269134.1:p.Gln2Pro
NM_001282205.2:c.5A>C	NP_001269134.1:p.Gln2Pro
NM_001282206.1:c.-249A>C	NP_001269135.1:n.-249A>C
NM_001282206.2:c.-249A>C	NP_001269135.1:n.-249A>C
NM_001282207.1:c.5A>C	NP_001269136.1:p.Gln2Pro
NM_001282207.2:c.5A>C	NP_001269136.1:p.Gln2Pro
NM_001282208.1:c.5A>C	NP_001269137.1:p.Gln2Pro
NM_001282208.2:c.5A>C	NP_001269137.1:p.Gln2Pro
NM_001282209.1:c.5A>C	NP_001269138.1:p.Gln2Pro
NM_001282209.2:c.5A>C	NP_001269138.1:p.Gln2Pro
NM_005866.3:c.5A>C	NP_005857.1:p.Gln2Pro
NM_147157.2:c.5A>C	NP_671513.1:p.Gln2Pro
NM_147157.3:c.5A>C	NP_671513.1:p.Gln2Pro
NR_104108.1:n.134A>C
NR_104108.2:n.95A>C
ENST00000277010.8:c.5A>C	ENSP00000277010.4:p.Gln2Pro
ENST00000353468.4:c.5A>C	ENSP00000434453.1:p.Gln2Pro
ENST00000378892.5:c.-389A>C	ENSP00000368170.1:n.-389A>C
ENST00000461426.1:n.104A>C
ENST00000477726.1:c.5A>C	ENSP00000420022.1:p.Gln2Pro
ENST00000497006.2:n.152A>C
ENST00000679597.1:c.5A>C	ENSP00000505634.1:p.Gln2Pro
ENST00000680104.1:c.5A>C	ENSP00000505949.1:p.Gln2Pro
ENST00000680244.1:c.5A>C	ENSP00000505305.1:p.Gln2Pro
ENST00000680277.1:c.5A>C	ENSP00000505742.1:p.Gln2Pro
ENST00000680730.1:c.5A>C	ENSP00000505588.1:p.Gln2Pro
ENST00000681409.1:n.124A>C
XM_011517674.1:c.5A>C	XP_011515976.1:p.Gln2Pro