Canonical Allele Identifier: CA1950148440

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393642C= , CM000673.2:g.6393642C=	GRCh38
NC_000011.9:g.6414872C= , CM000673.1:g.6414872C=	GRCh37
NC_000011.8:g.6371448C=	NCBI36
NG_011780.1:g.8218C=
NG_029615.1:g.30773G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1289C= MANE Select	ENSP00000340409.4:p.Pro430=
ENST00000342245.8:c.1289C=	ENSP00000340409.4:p.Pro430=
ENST00000526280.1:c.346C=
ENST00000527275.5:c.1286C=	ENSP00000435350.1:p.Pro429=
ENST00000531303.5:c.*120C=	ENSP00000432625.1:n.*120C=
ENST00000531336.1:n.121C=
ENST00000532367.1:n.125C=
ENST00000533123.5:c.*16C=	ENSP00000435950.1:n.*16C=
ENST00000534405.5:c.*120C=	ENSP00000434353.1:n.*120C=
NM_000543.4:c.1289C=	NP_000534.3:p.Pro430=
NM_001007593.2:c.1286C=	NP_001007594.2:p.Pro429=
XM_005253075.3:c.1289C=	XP_005253132.1:p.Pro430=
XM_011520303.1:c.1157C=	XP_011518605.1:p.Pro386=
XM_011520304.1:c.1157C=	XP_011518606.1:p.Pro386=
XR_930886.1:n.1627C=
NM_001318087.1:c.1289C=	NP_001305016.1:p.Pro430=
NM_001318088.1:c.368C=	NP_001305017.1:p.Pro123=
NM_001365135.1:c.1157C=	NP_001352064.1:p.Pro386=
NR_027400.2:n.1302C=
NR_134502.1:n.821C=
XM_011520304.2:c.1157C=	XP_011518606.1:p.Pro386=
XR_001747940.2:n.1454C=
XR_002957158.1:n.1454C=
NM_000543.5:c.1289C= MANE Select	NP_000534.3:p.Pro430=
NM_001007593.3:c.1286C=	NP_001007594.2:p.Pro429=
NM_001318087.2:c.1289C=	NP_001305016.1:p.Pro430=
NM_001318088.2:c.368C=	NP_001305017.1:p.Pro123=
NM_001365135.2:c.1157C=	NP_001352064.1:p.Pro386=
NR_027400.3:n.1242C=
NR_134502.2:n.761C=