Canonical Allele Identifier: CA2790309795

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394195C>A , CM000673.2:g.6394195C>A	GRCh38
NC_000011.9:g.6415425C>A , CM000673.1:g.6415425C>A	GRCh37
NC_000011.8:g.6372001C>A	NCBI36
NG_011780.1:g.8771C>A
NG_029615.1:g.30220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-3C>A MANE Select	ENSP00000340409.4:n.1487-3C>A
ENST00000342245.8:c.1487-3C>A	ENSP00000340409.4:n.1487-3C>A
ENST00000526280.1:c.544-3C>A
ENST00000527275.5:c.1484-3C>A	ENSP00000435350.1:n.1484-3C>A
ENST00000531303.5:c.*335C>A	ENSP00000432625.1:n.*335C>A
ENST00000531336.1:n.472C>A
ENST00000533123.5:c.*214-3C>A	ENSP00000435950.1:n.*214-3C>A
ENST00000534405.5:c.*318-3C>A	ENSP00000434353.1:n.*318-3C>A
NM_000543.4:c.1487-3C>A	NP_000534.3:n.1487-3C>A
NM_001007593.2:c.1484-3C>A	NP_001007594.2:n.1484-3C>A
XM_005253075.3:c.1504C>A	XP_005253132.1:p.Gln502Lys
XM_011520303.1:c.1355-3C>A	XP_011518605.1:n.1355-3C>A
XM_011520304.1:c.1372C>A	XP_011518606.1:p.Gln458Lys
NM_001318087.1:c.1504C>A	NP_001305016.1:p.Gln502Lys
NM_001318088.1:c.566-3C>A	NP_001305017.1:n.566-3C>A
NM_001365135.1:c.1355-3C>A	NP_001352064.1:n.1355-3C>A
NR_027400.2:n.1500-3C>A
NR_134502.1:n.1036C>A
XM_011520304.2:c.1372C>A	XP_011518606.1:p.Gln458Lys
XR_001747940.2:n.1669C>A
XR_002957158.1:n.1854-3C>A
NM_000543.5:c.1487-3C>A MANE Select	NP_000534.3:n.1487-3C>A
NM_001007593.3:c.1484-3C>A	NP_001007594.2:n.1484-3C>A
NM_001318087.2:c.1504C>A	NP_001305016.1:p.Gln502Lys
NM_001318088.2:c.566-3C>A	NP_001305017.1:n.566-3C>A
NM_001365135.2:c.1355-3C>A	NP_001352064.1:n.1355-3C>A
NR_027400.3:n.1440-3C>A
NR_134502.2:n.976C>A