Canonical Allele Identifier: CA373272722

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635812C>T , CM000671.2:g.34635812C>T	GRCh38
NC_000009.11:g.34635809C>T , CM000671.1:g.34635809C>T	GRCh37
NC_000009.10:g.34625809C>T	NCBI36
NG_029945.2:g.6960G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.492G>A MANE Select	NP_005857.1:p.Trp164Ter
ENST00000277010.9:c.492G>A MANE Select	ENSP00000277010.4:p.Trp164Ter
NM_001282205.1:c.446-172G>A	NP_001269134.1:n.446-172G>A
NM_001282205.2:c.446-172G>A	NP_001269134.1:n.446-172G>A
NM_001282206.1:c.192G>A	NP_001269135.1:p.Trp64Ter
NM_001282206.2:c.192G>A	NP_001269135.1:p.Trp64Ter
NM_001282207.1:c.432G>A	NP_001269136.1:p.Trp144Ter
NM_001282207.2:c.432G>A	NP_001269136.1:p.Trp144Ter
NM_001282208.1:c.*35G>A	NP_001269137.1:n.*35G>A
NM_001282208.2:c.*35G>A	NP_001269137.1:n.*35G>A
NM_001282209.1:c.*19G>A	NP_001269138.1:n.*19G>A
NM_001282209.2:c.*19G>A	NP_001269138.1:n.*19G>A
NM_005866.3:c.492G>A	NP_005857.1:p.Trp164Ter
NM_147157.2:c.399G>A	NP_671513.1:p.Trp133Ter
NM_147157.3:c.399G>A	NP_671513.1:p.Trp133Ter
NR_104108.1:n.508G>A
NR_104108.2:n.469G>A
ENST00000277010.8:c.492G>A	ENSP00000277010.4:p.Trp164Ter
ENST00000353468.4:c.*124G>A	ENSP00000434453.1:n.*124G>A
ENST00000378892.5:c.225G>A	ENSP00000368170.1:p.Trp75Ter
ENST00000461426.1:n.624G>A
ENST00000477726.1:c.399G>A	ENSP00000420022.1:p.Trp133Ter
ENST00000497006.1:n.608G>A
ENST00000497006.2:n.769G>A
ENST00000679597.1:c.432G>A	ENSP00000505634.1:p.Trp144Ter
ENST00000680104.1:c.*662G>A	ENSP00000505949.1:n.*662G>A
ENST00000680244.1:c.446-172G>A	ENSP00000505305.1:n.446-172G>A
ENST00000680277.1:c.*35G>A	ENSP00000505742.1:n.*35G>A
ENST00000680730.1:c.*19G>A	ENSP00000505588.1:n.*19G>A
ENST00000681409.1:n.1879G>A
XM_011517674.1:c.468G>A	XP_011515976.1:p.Trp156Ter