Canonical Allele Identifier: CA1950148415

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393632C= , CM000673.2:g.6393632C=	GRCh38
NC_000011.9:g.6414862C= , CM000673.1:g.6414862C=	GRCh37
NC_000011.8:g.6371438C=	NCBI36
NG_011780.1:g.8208C=
NG_029615.1:g.30783G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1279C= MANE Select	ENSP00000340409.4:p.His427=
ENST00000342245.8:c.1279C=	ENSP00000340409.4:p.His427=
ENST00000526280.1:c.336C=
ENST00000527275.5:c.1276C=	ENSP00000435350.1:p.His426=
ENST00000531303.5:c.*110C=	ENSP00000432625.1:n.*110C=
ENST00000531336.1:n.111C=
ENST00000532367.1:n.115C=
ENST00000533123.5:c.*6C=	ENSP00000435950.1:n.*6C=
ENST00000534405.5:c.*110C=	ENSP00000434353.1:n.*110C=
NM_000543.4:c.1279C=	NP_000534.3:p.His427=
NM_001007593.2:c.1276C=	NP_001007594.2:p.His426=
XM_005253075.3:c.1279C=	XP_005253132.1:p.His427=
XM_011520303.1:c.1147C=	XP_011518605.1:p.His383=
XM_011520304.1:c.1147C=	XP_011518606.1:p.His383=
XR_930886.1:n.1617C=
NM_001318087.1:c.1279C=	NP_001305016.1:p.His427=
NM_001318088.1:c.358C=	NP_001305017.1:p.His120=
NM_001365135.1:c.1147C=	NP_001352064.1:p.His383=
NR_027400.2:n.1292C=
NR_134502.1:n.811C=
XM_011520304.2:c.1147C=	XP_011518606.1:p.His383=
XR_001747940.2:n.1444C=
XR_002957158.1:n.1444C=
NM_000543.5:c.1279C= MANE Select	NP_000534.3:p.His427=
NM_001007593.3:c.1276C=	NP_001007594.2:p.His426=
NM_001318087.2:c.1279C=	NP_001305016.1:p.His427=
NM_001318088.2:c.358C=	NP_001305017.1:p.His120=
NM_001365135.2:c.1147C=	NP_001352064.1:p.His383=
NR_027400.3:n.1232C=
NR_134502.2:n.751C=