Canonical Allele Identifier: CA379377118

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394494C>G , CM000673.2:g.6394494C>G	GRCh38
NC_000011.9:g.6415724C>G , CM000673.1:g.6415724C>G	GRCh37
NC_000011.8:g.6372300C>G	NCBI36
NG_011780.1:g.9070C>G
NG_029615.1:g.29921G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1783C>G MANE Select	NP_000534.3:p.Leu595Val
ENST00000342245.9:c.1783C>G MANE Select	ENSP00000340409.4:p.Leu595Val
NM_000543.4:c.1783C>G	NP_000534.3:p.Leu595Val
NM_001007593.2:c.1780C>G	NP_001007594.2:p.Leu594Val
NM_001007593.3:c.1780C>G	NP_001007594.2:p.Leu594Val
NM_001318087.1:c.*276C>G	NP_001305016.1:n.*276C>G
NM_001318087.2:c.*276C>G	NP_001305016.1:n.*276C>G
NM_001318088.1:c.862C>G	NP_001305017.1:p.Leu288Val
NM_001318088.2:c.862C>G	NP_001305017.1:p.Leu288Val
NM_001365135.1:c.1651C>G	NP_001352064.1:p.Leu551Val
NM_001365135.2:c.1651C>G	NP_001352064.1:p.Leu551Val
NR_027400.2:n.1796C>G
NR_027400.3:n.1736C>G
NR_134502.1:n.1335C>G
NR_134502.2:n.1275C>G
ENST00000342245.8:c.1783C>G	ENSP00000340409.4:p.Leu595Val
ENST00000526280.1:c.840C>G
ENST00000527275.5:c.1780C>G	ENSP00000435350.1:p.Leu594Val
ENST00000531303.5:c.*634C>G	ENSP00000432625.1:n.*634C>G
ENST00000533123.5:c.*510C>G	ENSP00000435950.1:n.*510C>G
ENST00000534405.5:c.*614C>G	ENSP00000434353.1:n.*614C>G
XM_005253075.3:c.*276C>G	XP_005253132.1:n.*276C>G
XM_011520303.1:c.1651C>G	XP_011518605.1:p.Leu551Val
XM_011520304.1:c.*276C>G	XP_011518606.1:n.*276C>G
XM_011520304.2:c.*276C>G	XP_011518606.1:n.*276C>G
XR_001747940.2:n.1968C>G
XR_002957158.1:n.2150C>G