Canonical Allele Identifier: CA246587

Gene: SMPD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394309C>T , CM000673.2:g.6394309C>T	GRCh38
NC_000011.9:g.6415539C>T , CM000673.1:g.6415539C>T	GRCh37
NC_000011.8:g.6372115C>T	NCBI36
NG_011780.1:g.8885C>T
NG_029615.1:g.30106G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1598C>T MANE Select	ENSP00000340409.4:p.Pro533Leu
ENST00000342245.8:c.1598C>T	ENSP00000340409.4:p.Pro533Leu
ENST00000526280.1:c.655C>T
ENST00000527275.5:c.1595C>T	ENSP00000435350.1:p.Pro532Leu
ENST00000531303.5:c.*449C>T	ENSP00000432625.1:n.*449C>T
ENST00000531336.1:n.586C>T
ENST00000533123.5:c.*325C>T	ENSP00000435950.1:n.*325C>T
ENST00000534405.5:c.*429C>T	ENSP00000434353.1:n.*429C>T
NM_000543.4:c.1598C>T	NP_000534.3:p.Pro533Leu
NM_001007593.2:c.1595C>T	NP_001007594.2:p.Pro532Leu
XM_005253075.3:c.*91C>T	XP_005253132.1:n.*91C>T
XM_011520303.1:c.1466C>T	XP_011518605.1:p.Pro489Leu
XM_011520304.1:c.*91C>T	XP_011518606.1:n.*91C>T
NM_001318087.1:c.*91C>T	NP_001305016.1:n.*91C>T
NM_001318088.1:c.677C>T	NP_001305017.1:p.Pro226Leu
NM_001365135.1:c.1466C>T	NP_001352064.1:p.Pro489Leu
NR_027400.2:n.1611C>T
NR_134502.1:n.1150C>T
XM_011520304.2:c.*91C>T	XP_011518606.1:n.*91C>T
XR_001747940.2:n.1783C>T
XR_002957158.1:n.1965C>T
NM_000543.5:c.1598C>T MANE Select	NP_000534.3:p.Pro533Leu
NM_001007593.3:c.1595C>T	NP_001007594.2:p.Pro532Leu
NM_001318087.2:c.*91C>T	NP_001305016.1:n.*91C>T
NM_001318088.2:c.677C>T	NP_001305017.1:p.Pro226Leu
NM_001365135.2:c.1466C>T	NP_001352064.1:p.Pro489Leu
NR_027400.3:n.1551C>T
NR_134502.2:n.1090C>T