Canonical Allele Identifier: CA5852935

Gene: SMPD1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394272C>T , CM000673.2:g.6394272C>T	GRCh38
NC_000011.9:g.6415502C>T , CM000673.1:g.6415502C>T	GRCh37
NC_000011.8:g.6372078C>T	NCBI36
NG_011780.1:g.8848C>T
NG_029615.1:g.30143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1561C>T MANE Select	ENSP00000340409.4:p.Leu521=
ENST00000342245.8:c.1561C>T	ENSP00000340409.4:p.Leu521=
ENST00000526280.1:c.618C>T
ENST00000527275.5:c.1558C>T	ENSP00000435350.1:p.Leu520=
ENST00000531303.5:c.*412C>T	ENSP00000432625.1:n.*412C>T
ENST00000531336.1:n.549C>T
ENST00000533123.5:c.*288C>T	ENSP00000435950.1:n.*288C>T
ENST00000534405.5:c.*392C>T	ENSP00000434353.1:n.*392C>T
NM_000543.4:c.1561C>T	NP_000534.3:p.Leu521=
NM_001007593.2:c.1558C>T	NP_001007594.2:p.Leu520=
XM_005253075.3:c.*54C>T	XP_005253132.1:n.*54C>T
XM_011520303.1:c.1429C>T	XP_011518605.1:p.Leu477=
XM_011520304.1:c.*54C>T	XP_011518606.1:n.*54C>T
NM_001318087.1:c.*54C>T	NP_001305016.1:n.*54C>T
NM_001318088.1:c.640C>T	NP_001305017.1:p.Leu214=
NM_001365135.1:c.1429C>T	NP_001352064.1:p.Leu477=
NR_027400.2:n.1574C>T
NR_134502.1:n.1113C>T
XM_011520304.2:c.*54C>T	XP_011518606.1:n.*54C>T
XR_001747940.2:n.1746C>T
XR_002957158.1:n.1928C>T
NM_000543.5:c.1561C>T MANE Select	NP_000534.3:p.Leu521=
NM_001007593.3:c.1558C>T	NP_001007594.2:p.Leu520=
NM_001318087.2:c.*54C>T	NP_001305016.1:n.*54C>T
NM_001318088.2:c.640C>T	NP_001305017.1:p.Leu214=
NM_001365135.2:c.1429C>T	NP_001352064.1:p.Leu477=
NR_027400.3:n.1514C>T
NR_134502.2:n.1053C>T