Canonical Allele Identifier: CA5035856

Gene: SIGMAR1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34635856C>T , CM000671.2:g.34635856C>T	GRCh38
NC_000009.11:g.34635853C>T , CM000671.1:g.34635853C>T	GRCh37
NC_000009.10:g.34625853C>T	NCBI36
NG_029945.2:g.6916G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005866.4:c.448G>A MANE Select	NP_005857.1:p.Glu150Lys
ENST00000277010.9:c.448G>A MANE Select	ENSP00000277010.4:p.Glu150Lys
NM_001282205.1:c.446-216G>A	NP_001269134.1:n.446-216G>A
NM_001282205.2:c.446-216G>A	NP_001269134.1:n.446-216G>A
NM_001282206.1:c.148G>A	NP_001269135.1:p.Glu50Lys
NM_001282206.2:c.148G>A	NP_001269135.1:p.Glu50Lys
NM_001282207.1:c.388G>A	NP_001269136.1:p.Glu130Lys
NM_001282207.2:c.388G>A	NP_001269136.1:p.Glu130Lys
NM_001282208.1:c.471G>A	NP_001269137.1:p.Gly157=
NM_001282208.2:c.471G>A	NP_001269137.1:p.Gly157=
NM_001282209.1:c.308G>A	NP_001269138.1:p.Gly103Glu
NM_001282209.2:c.308G>A	NP_001269138.1:p.Gly103Glu
NM_005866.3:c.448G>A	NP_005857.1:p.Glu150Lys
NM_147157.2:c.355G>A	NP_671513.1:p.Glu119Lys
NM_147157.3:c.355G>A	NP_671513.1:p.Glu119Lys
NR_104108.1:n.464G>A
NR_104108.2:n.425G>A
ENST00000277010.8:c.448G>A	ENSP00000277010.4:p.Glu150Lys
ENST00000353468.4:c.*80G>A	ENSP00000434453.1:n.*80G>A
ENST00000378892.5:c.181G>A	ENSP00000368170.1:p.Glu61Lys
ENST00000461426.1:n.580G>A
ENST00000477726.1:c.355G>A	ENSP00000420022.1:p.Glu119Lys
ENST00000497006.1:n.564G>A
ENST00000497006.2:n.725G>A
ENST00000679597.1:c.388G>A	ENSP00000505634.1:p.Glu130Lys
ENST00000680104.1:c.*618G>A	ENSP00000505949.1:n.*618G>A
ENST00000680244.1:c.446-216G>A	ENSP00000505305.1:n.446-216G>A
ENST00000680277.1:c.471G>A	ENSP00000505742.1:p.Gly157=
ENST00000680730.1:c.308G>A	ENSP00000505588.1:p.Gly103Glu
ENST00000681409.1:n.1835G>A
XM_011517674.1:c.424G>A	XP_011515976.1:p.Glu142Lys