Canonical Allele Identifier: CA1950149303

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394194G= , CM000673.2:g.6394194G=	GRCh38
NC_000011.9:g.6415424G= , CM000673.1:g.6415424G=	GRCh37
NC_000011.8:g.6372000G=	NCBI36
NG_011780.1:g.8770G=
NG_029615.1:g.30221C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-4G= MANE Select	ENSP00000340409.4:n.1487-4G=
ENST00000342245.8:c.1487-4G=	ENSP00000340409.4:n.1487-4G=
ENST00000526280.1:c.544-4G=
ENST00000527275.5:c.1484-4G=	ENSP00000435350.1:n.1484-4G=
ENST00000531303.5:c.*334G=	ENSP00000432625.1:n.*334G=
ENST00000531336.1:n.471G=
ENST00000533123.5:c.*214-4G=	ENSP00000435950.1:n.*214-4G=
ENST00000534405.5:c.*318-4G=	ENSP00000434353.1:n.*318-4G=
NM_000543.4:c.1487-4G=	NP_000534.3:n.1487-4G=
NM_001007593.2:c.1484-4G=	NP_001007594.2:n.1484-4G=
XM_005253075.3:c.1503G=	XP_005253132.1:p.Leu501=
XM_011520303.1:c.1355-4G=	XP_011518605.1:n.1355-4G=
XM_011520304.1:c.1371G=	XP_011518606.1:p.Leu457=
NM_001318087.1:c.1503G=	NP_001305016.1:p.Leu501=
NM_001318088.1:c.566-4G=	NP_001305017.1:n.566-4G=
NM_001365135.1:c.1355-4G=	NP_001352064.1:n.1355-4G=
NR_027400.2:n.1500-4G=
NR_134502.1:n.1035G=
XM_011520304.2:c.1371G=	XP_011518606.1:p.Leu457=
XR_001747940.2:n.1668G=
XR_002957158.1:n.1854-4G=
NM_000543.5:c.1487-4G= MANE Select	NP_000534.3:n.1487-4G=
NM_001007593.3:c.1484-4G=	NP_001007594.2:n.1484-4G=
NM_001318087.2:c.1503G=	NP_001305016.1:p.Leu501=
NM_001318088.2:c.566-4G=	NP_001305017.1:n.566-4G=
NM_001365135.2:c.1355-4G=	NP_001352064.1:n.1355-4G=
NR_027400.3:n.1440-4G=
NR_134502.2:n.975G=