Canonical Allele Identifier: CA2739291422

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394193T>G , CM000673.2:g.6394193T>G	GRCh38
NC_000011.9:g.6415423T>G , CM000673.1:g.6415423T>G	GRCh37
NC_000011.8:g.6371999T>G	NCBI36
NG_011780.1:g.8769T>G
NG_029615.1:g.30222A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-5T>G MANE Select	ENSP00000340409.4:n.1487-5T>G
ENST00000342245.8:c.1487-5T>G	ENSP00000340409.4:n.1487-5T>G
ENST00000526280.1:c.544-5T>G
ENST00000527275.5:c.1484-5T>G	ENSP00000435350.1:n.1484-5T>G
ENST00000531303.5:c.*333T>G	ENSP00000432625.1:n.*333T>G
ENST00000531336.1:n.470T>G
ENST00000533123.5:c.*214-5T>G	ENSP00000435950.1:n.*214-5T>G
ENST00000534405.5:c.*318-5T>G	ENSP00000434353.1:n.*318-5T>G
NM_000543.4:c.1487-5T>G	NP_000534.3:n.1487-5T>G
NM_001007593.2:c.1484-5T>G	NP_001007594.2:n.1484-5T>G
XM_005253075.3:c.1502T>G	XP_005253132.1:p.Leu501Trp
XM_011520303.1:c.1355-5T>G	XP_011518605.1:n.1355-5T>G
XM_011520304.1:c.1370T>G	XP_011518606.1:p.Leu457Trp
NM_001318087.1:c.1502T>G	NP_001305016.1:p.Leu501Trp
NM_001318088.1:c.566-5T>G	NP_001305017.1:n.566-5T>G
NM_001365135.1:c.1355-5T>G	NP_001352064.1:n.1355-5T>G
NR_027400.2:n.1500-5T>G
NR_134502.1:n.1034T>G
XM_011520304.2:c.1370T>G	XP_011518606.1:p.Leu457Trp
XR_001747940.2:n.1667T>G
XR_002957158.1:n.1854-5T>G
NM_000543.5:c.1487-5T>G MANE Select	NP_000534.3:n.1487-5T>G
NM_001007593.3:c.1484-5T>G	NP_001007594.2:n.1484-5T>G
NM_001318087.2:c.1502T>G	NP_001305016.1:p.Leu501Trp
NM_001318088.2:c.566-5T>G	NP_001305017.1:n.566-5T>G
NM_001365135.2:c.1355-5T>G	NP_001352064.1:n.1355-5T>G
NR_027400.3:n.1440-5T>G
NR_134502.2:n.974T>G