Canonical Allele Identifier: CA1950145813

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390865C= , CM000673.2:g.6390865C=	GRCh38
NC_000011.9:g.6412095C= , CM000673.1:g.6412095C=	GRCh37
NC_000011.8:g.6368671C=	NCBI36
NG_011780.1:g.5441C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.267C= MANE Select	ENSP00000340409.4:p.Leu89=
ENST00000342245.8:c.267C=	ENSP00000340409.4:p.Leu89=
ENST00000527275.5:c.267C=	ENSP00000435350.1:p.Leu89=
ENST00000530395.1:c.-96+226C=	ENSP00000431479.1:n.-96+226C=
ENST00000531303.5:c.267C=	ENSP00000432625.1:p.Leu89=
ENST00000533123.5:c.267C=	ENSP00000435950.1:p.Leu89=
ENST00000533196.1:n.374+52C=
ENST00000534405.5:c.267C=	ENSP00000434353.1:p.Leu89=
NM_000543.4:c.267C=	NP_000534.3:p.Leu89=
NM_001007593.2:c.267C=	NP_001007594.2:p.Leu89=
XM_005253075.3:c.267C=	XP_005253132.1:p.Leu89=
XM_011520303.1:c.267C=	XP_011518605.1:p.Leu89=
XM_011520304.1:c.267C=	XP_011518606.1:p.Leu89=
XR_930886.1:n.565C=
NM_001318087.1:c.267C=	NP_001305016.1:p.Leu89=
NM_001318088.1:c.-695C=	NP_001305017.1:n.-695C=
NM_001365135.1:c.267C=	NP_001352064.1:p.Leu89=
NR_027400.2:n.452C=
NR_134502.1:n.452C=
XM_011520304.2:c.267C=	XP_011518606.1:p.Leu89=
XR_001747940.2:n.392C=
XR_002957158.1:n.392C=
NM_000543.5:c.267C= MANE Select	NP_000534.3:p.Leu89=
NM_001007593.3:c.267C=	NP_001007594.2:p.Leu89=
NM_001318087.2:c.267C=	NP_001305016.1:p.Leu89=
NM_001318088.2:c.-695C=	NP_001305017.1:n.-695C=
NM_001365135.2:c.267C=	NP_001352064.1:p.Leu89=
NR_027400.3:n.392C=
NR_134502.2:n.392C=