Canonical Allele Identifier: CA1950149595

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394300G= , CM000673.2:g.6394300G=	GRCh38
NC_000011.9:g.6415530G= , CM000673.1:g.6415530G=	GRCh37
NC_000011.8:g.6372106G=	NCBI36
NG_011780.1:g.8876G=
NG_029615.1:g.30115C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1589G= MANE Select	ENSP00000340409.4:p.Gly530=
ENST00000342245.8:c.1589G=	ENSP00000340409.4:p.Gly530=
ENST00000526280.1:c.646G=
ENST00000527275.5:c.1586G=	ENSP00000435350.1:p.Gly529=
ENST00000531303.5:c.*440G=	ENSP00000432625.1:n.*440G=
ENST00000531336.1:n.577G=
ENST00000533123.5:c.*316G=	ENSP00000435950.1:n.*316G=
ENST00000534405.5:c.*420G=	ENSP00000434353.1:n.*420G=
NM_000543.4:c.1589G=	NP_000534.3:p.Gly530=
NM_001007593.2:c.1586G=	NP_001007594.2:p.Gly529=
XM_005253075.3:c.*82G=	XP_005253132.1:n.*82G=
XM_011520303.1:c.1457G=	XP_011518605.1:p.Gly486=
XM_011520304.1:c.*82G=	XP_011518606.1:n.*82G=
NM_001318087.1:c.*82G=	NP_001305016.1:n.*82G=
NM_001318088.1:c.668G=	NP_001305017.1:p.Gly223=
NM_001365135.1:c.1457G=	NP_001352064.1:p.Gly486=
NR_027400.2:n.1602G=
NR_134502.1:n.1141G=
XM_011520304.2:c.*82G=	XP_011518606.1:n.*82G=
XR_001747940.2:n.1774G=
XR_002957158.1:n.1956G=
NM_000543.5:c.1589G= MANE Select	NP_000534.3:p.Gly530=
NM_001007593.3:c.1586G=	NP_001007594.2:p.Gly529=
NM_001318087.2:c.*82G=	NP_001305016.1:n.*82G=
NM_001318088.2:c.668G=	NP_001305017.1:p.Gly223=
NM_001365135.2:c.1457G=	NP_001352064.1:p.Gly486=
NR_027400.3:n.1542G=
NR_134502.2:n.1081G=