Canonical Allele Identifier: CA5852946

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394331G>A , CM000673.2:g.6394331G>A	GRCh38
NC_000011.9:g.6415561G>A , CM000673.1:g.6415561G>A	GRCh37
NC_000011.8:g.6372137G>A	NCBI36
NG_011780.1:g.8907G>A
NG_029615.1:g.30084C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1620G>A MANE Select	NP_000534.3:p.Arg540=
ENST00000342245.9:c.1620G>A MANE Select	ENSP00000340409.4:p.Arg540=
NM_000543.4:c.1620G>A	NP_000534.3:p.Arg540=
NM_001007593.2:c.1617G>A	NP_001007594.2:p.Arg539=
NM_001007593.3:c.1617G>A	NP_001007594.2:p.Arg539=
NM_001318087.1:c.*113G>A	NP_001305016.1:n.*113G>A
NM_001318087.2:c.*113G>A	NP_001305016.1:n.*113G>A
NM_001318088.1:c.699G>A	NP_001305017.1:p.Arg233=
NM_001318088.2:c.699G>A	NP_001305017.1:p.Arg233=
NM_001365135.1:c.1488G>A	NP_001352064.1:p.Arg496=
NM_001365135.2:c.1488G>A	NP_001352064.1:p.Arg496=
NR_027400.2:n.1633G>A
NR_027400.3:n.1573G>A
NR_134502.1:n.1172G>A
NR_134502.2:n.1112G>A
ENST00000342245.8:c.1620G>A	ENSP00000340409.4:p.Arg540=
ENST00000526280.1:c.677G>A
ENST00000527275.5:c.1617G>A	ENSP00000435350.1:p.Arg539=
ENST00000531303.5:c.*471G>A	ENSP00000432625.1:n.*471G>A
ENST00000531336.1:n.608G>A
ENST00000533123.5:c.*347G>A	ENSP00000435950.1:n.*347G>A
ENST00000534405.5:c.*451G>A	ENSP00000434353.1:n.*451G>A
XM_005253075.3:c.*113G>A	XP_005253132.1:n.*113G>A
XM_011520303.1:c.1488G>A	XP_011518605.1:p.Arg496=
XM_011520304.1:c.*113G>A	XP_011518606.1:n.*113G>A
XM_011520304.2:c.*113G>A	XP_011518606.1:n.*113G>A
XR_001747940.2:n.1805G>A
XR_002957158.1:n.1987G>A