Canonical Allele Identifier: CA1950146202

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391581T= , CM000673.2:g.6391581T=	GRCh38
NC_000011.9:g.6412811T= , CM000673.1:g.6412811T=	GRCh37
NC_000011.8:g.6369387T=	NCBI36
NG_011780.1:g.6157T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.516T= MANE Select	ENSP00000340409.4:p.Ile172=
ENST00000342245.8:c.516T=	ENSP00000340409.4:p.Ile172=
ENST00000527275.5:c.513T=	ENSP00000435350.1:p.Ile171=
ENST00000530395.1:c.-95-209T=	ENSP00000431479.1:n.-95-209T=
ENST00000531303.5:c.438+78T=	ENSP00000432625.1:n.438+78T=
ENST00000533123.5:c.516T=	ENSP00000435950.1:p.Ile172=
ENST00000533196.1:n.375-425T=
ENST00000534405.5:c.516T=	ENSP00000434353.1:p.Ile172=
NM_000543.4:c.516T=	NP_000534.3:p.Ile172=
NM_001007593.2:c.513T=	NP_001007594.2:p.Ile171=
XM_005253075.3:c.516T=	XP_005253132.1:p.Ile172=
XM_011520303.1:c.516T=	XP_011518605.1:p.Ile172=
XM_011520304.1:c.516T=	XP_011518606.1:p.Ile172=
XR_930886.1:n.814T=
NM_001318087.1:c.516T=	NP_001305016.1:p.Ile172=
NM_001318088.1:c.-446T=	NP_001305017.1:n.-446T=
NM_001365135.1:c.516T=	NP_001352064.1:p.Ile172=
NR_027400.2:n.701T=
NR_134502.1:n.623+78T=
XM_011520304.2:c.516T=	XP_011518606.1:p.Ile172=
XR_001747940.2:n.641T=
XR_002957158.1:n.641T=
NM_000543.5:c.516T= MANE Select	NP_000534.3:p.Ile172=
NM_001007593.3:c.513T=	NP_001007594.2:p.Ile171=
NM_001318087.2:c.516T=	NP_001305016.1:p.Ile172=
NM_001318088.2:c.-446T=	NP_001305017.1:n.-446T=
NM_001365135.2:c.516T=	NP_001352064.1:p.Ile172=
NR_027400.3:n.641T=
NR_134502.2:n.563+78T=