Canonical Allele Identifier: CA1950150301

Gene: SMPD1

Linked Data

• dbSNP Id: rs1564928350

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394646G>T , CM000673.2:g.6394646G>T	GRCh38
NC_000011.9:g.6415876G>T , CM000673.1:g.6415876G>T	GRCh37
NC_000011.8:g.6372452G>T	NCBI36
NG_011780.1:g.9222G>T
NG_029615.1:g.29769C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*39G>T MANE Select	ENSP00000340409.4:n.*39G>T
ENST00000342245.8:c.*39G>T	ENSP00000340409.4:n.*39G>T
ENST00000526280.1:c.992G>T
ENST00000527275.5:c.*39G>T	ENSP00000435350.1:n.*39G>T
ENST00000531303.5:c.*786G>T	ENSP00000432625.1:n.*786G>T
ENST00000533123.5:c.*662G>T	ENSP00000435950.1:n.*662G>T
ENST00000534405.5:c.*766G>T	ENSP00000434353.1:n.*766G>T
NM_000543.4:c.*39G>T	NP_000534.3:n.*39G>T
NM_001007593.2:c.*39G>T	NP_001007594.2:n.*39G>T
XM_011520303.1:c.*39G>T	XP_011518605.1:n.*39G>T
NM_001318087.1:c.*428G>T	NP_001305016.1:n.*428G>T
NM_001318088.1:c.*39G>T	NP_001305017.1:n.*39G>T
NM_001365135.1:c.*39G>T	NP_001352064.1:n.*39G>T
NR_027400.2:n.1948G>T
NR_134502.1:n.1487G>T
XR_001747940.2:n.2120G>T
XR_002957158.1:n.2302G>T
NM_000543.5:c.*39G>T MANE Select	NP_000534.3:n.*39G>T
NM_001007593.3:c.*39G>T	NP_001007594.2:n.*39G>T
NM_001318087.2:c.*428G>T	NP_001305016.1:n.*428G>T
NM_001318088.2:c.*39G>T	NP_001305017.1:n.*39G>T
NM_001365135.2:c.*39G>T	NP_001352064.1:n.*39G>T
NR_027400.3:n.1888G>T
NR_134502.2:n.1427G>T