Canonical Allele Identifier: CA2574738714

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2945386
• ClinVar RCV Id: RCV003801040

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393877T>C , CM000673.2:g.6393877T>C	GRCh38
NC_000011.9:g.6415107T>C , CM000673.1:g.6415107T>C	GRCh37
NC_000011.8:g.6371683T>C	NCBI36
NG_011780.1:g.8453T>C
NG_029615.1:g.30538A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1341-19T>C MANE Select	ENSP00000340409.4:n.1341-19T>C
ENST00000342245.8:c.1341-19T>C	ENSP00000340409.4:n.1341-19T>C
ENST00000526280.1:c.398-19T>C
ENST00000527275.5:c.1338-19T>C	ENSP00000435350.1:n.1338-19T>C
ENST00000531303.5:c.*172-19T>C	ENSP00000432625.1:n.*172-19T>C
ENST00000531336.1:n.173-19T>C
ENST00000532367.1:n.177-19T>C
ENST00000533123.5:c.*68-19T>C	ENSP00000435950.1:n.*68-19T>C
ENST00000534405.5:c.*172-19T>C	ENSP00000434353.1:n.*172-19T>C
NM_000543.4:c.1341-19T>C	NP_000534.3:n.1341-19T>C
NM_001007593.2:c.1338-19T>C	NP_001007594.2:n.1338-19T>C
XM_005253075.3:c.1341-19T>C	XP_005253132.1:n.1341-19T>C
XM_011520303.1:c.1209-19T>C	XP_011518605.1:n.1209-19T>C
XM_011520304.1:c.1209-19T>C	XP_011518606.1:n.1209-19T>C
XR_930886.1:n.1679-19T>C
NM_001318087.1:c.1341-19T>C	NP_001305016.1:n.1341-19T>C
NM_001318088.1:c.420-19T>C	NP_001305017.1:n.420-19T>C
NM_001365135.1:c.1209-19T>C	NP_001352064.1:n.1209-19T>C
NR_027400.2:n.1354-19T>C
NR_134502.1:n.873-19T>C
XM_011520304.2:c.1209-19T>C	XP_011518606.1:n.1209-19T>C
XR_001747940.2:n.1506-19T>C
XR_002957158.1:n.1689T>C
NM_000543.5:c.1341-19T>C MANE Select	NP_000534.3:n.1341-19T>C
NM_001007593.3:c.1338-19T>C	NP_001007594.2:n.1338-19T>C
NM_001318087.2:c.1341-19T>C	NP_001305016.1:n.1341-19T>C
NM_001318088.2:c.420-19T>C	NP_001305017.1:n.420-19T>C
NM_001365135.2:c.1209-19T>C	NP_001352064.1:n.1209-19T>C
NR_027400.3:n.1294-19T>C
NR_134502.2:n.813-19T>C