Canonical Allele Identifier: CA379377193

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394516G>T , CM000673.2:g.6394516G>T	GRCh38
NC_000011.9:g.6415746G>T , CM000673.1:g.6415746G>T	GRCh37
NC_000011.8:g.6372322G>T	NCBI36
NG_011780.1:g.9092G>T
NG_029615.1:g.29899C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1805G>T MANE Select	NP_000534.3:p.Arg602Leu
ENST00000342245.9:c.1805G>T MANE Select	ENSP00000340409.4:p.Arg602Leu
NM_000543.4:c.1805G>T	NP_000534.3:p.Arg602Leu
NM_001007593.2:c.1802G>T	NP_001007594.2:p.Arg601Leu
NM_001007593.3:c.1802G>T	NP_001007594.2:p.Arg601Leu
NM_001318087.1:c.*298G>T	NP_001305016.1:n.*298G>T
NM_001318087.2:c.*298G>T	NP_001305016.1:n.*298G>T
NM_001318088.1:c.884G>T	NP_001305017.1:p.Arg295Leu
NM_001318088.2:c.884G>T	NP_001305017.1:p.Arg295Leu
NM_001365135.1:c.1673G>T	NP_001352064.1:p.Arg558Leu
NM_001365135.2:c.1673G>T	NP_001352064.1:p.Arg558Leu
NR_027400.2:n.1818G>T
NR_027400.3:n.1758G>T
NR_134502.1:n.1357G>T
NR_134502.2:n.1297G>T
ENST00000342245.8:c.1805G>T	ENSP00000340409.4:p.Arg602Leu
ENST00000526280.1:c.862G>T
ENST00000527275.5:c.1802G>T	ENSP00000435350.1:p.Arg601Leu
ENST00000531303.5:c.*656G>T	ENSP00000432625.1:n.*656G>T
ENST00000533123.5:c.*532G>T	ENSP00000435950.1:n.*532G>T
ENST00000534405.5:c.*636G>T	ENSP00000434353.1:n.*636G>T
XM_005253075.3:c.*298G>T	XP_005253132.1:n.*298G>T
XM_011520303.1:c.1673G>T	XP_011518605.1:p.Arg558Leu
XM_011520304.1:c.*298G>T	XP_011518606.1:n.*298G>T
XM_011520304.2:c.*298G>T	XP_011518606.1:n.*298G>T
XR_001747940.2:n.1990G>T
XR_002957158.1:n.2172G>T