Canonical Allele Identifier: CA1950148961

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393961A= , CM000673.2:g.6393961A=	GRCh38
NC_000011.9:g.6415191A= , CM000673.1:g.6415191A=	GRCh37
NC_000011.8:g.6371767A=	NCBI36
NG_011780.1:g.8537A=
NG_029615.1:g.30454T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1406A= MANE Select	NP_000534.3:p.Tyr469=
ENST00000342245.9:c.1406A= MANE Select	ENSP00000340409.4:p.Tyr469=
NM_000543.4:c.1406A=	NP_000534.3:p.Tyr469=
NM_001007593.2:c.1403A=	NP_001007594.2:p.Tyr468=
NM_001007593.3:c.1403A=	NP_001007594.2:p.Tyr468=
NM_001318087.1:c.1406A=	NP_001305016.1:p.Tyr469=
NM_001318087.2:c.1406A=	NP_001305016.1:p.Tyr469=
NM_001318088.1:c.485A=	NP_001305017.1:p.Tyr162=
NM_001318088.2:c.485A=	NP_001305017.1:p.Tyr162=
NM_001365135.1:c.1274A=	NP_001352064.1:p.Tyr425=
NM_001365135.2:c.1274A=	NP_001352064.1:p.Tyr425=
NR_027400.2:n.1419A=
NR_027400.3:n.1359A=
NR_134502.1:n.938A=
NR_134502.2:n.878A=
ENST00000342245.8:c.1406A=	ENSP00000340409.4:p.Tyr469=
ENST00000526280.1:c.463A=
ENST00000527275.5:c.1403A=	ENSP00000435350.1:p.Tyr468=
ENST00000531303.5:c.*237A=	ENSP00000432625.1:n.*237A=
ENST00000531336.1:n.238A=
ENST00000532367.1:n.242A=
ENST00000533123.5:c.*133A=	ENSP00000435950.1:n.*133A=
ENST00000534405.5:c.*237A=	ENSP00000434353.1:n.*237A=
XM_005253075.3:c.1406A=	XP_005253132.1:p.Tyr469=
XM_011520303.1:c.1274A=	XP_011518605.1:p.Tyr425=
XM_011520304.1:c.1274A=	XP_011518606.1:p.Tyr425=
XM_011520304.2:c.1274A=	XP_011518606.1:p.Tyr425=
XR_001747940.2:n.1571A=
XR_002957158.1:n.1773A=
XR_930886.1:n.1744A=