Canonical Allele Identifier: CA1950146231

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391630A= , CM000673.2:g.6391630A=	GRCh38
NC_000011.9:g.6412860A= , CM000673.1:g.6412860A=	GRCh37
NC_000011.8:g.6369436A=	NCBI36
NG_011780.1:g.6206A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.565A= MANE Select	ENSP00000340409.4:p.Lys189=
ENST00000342245.8:c.565A=	ENSP00000340409.4:p.Lys189=
ENST00000527275.5:c.562A=	ENSP00000435350.1:p.Lys188=
ENST00000530395.1:c.-95-160A=	ENSP00000431479.1:n.-95-160A=
ENST00000531303.5:c.438+127A=	ENSP00000432625.1:n.438+127A=
ENST00000533123.5:c.565A=	ENSP00000435950.1:p.Lys189=
ENST00000533196.1:n.375-376A=
ENST00000534405.5:c.565A=	ENSP00000434353.1:p.Lys189=
NM_000543.4:c.565A=	NP_000534.3:p.Lys189=
NM_001007593.2:c.562A=	NP_001007594.2:p.Lys188=
XM_005253075.3:c.565A=	XP_005253132.1:p.Lys189=
XM_011520303.1:c.565A=	XP_011518605.1:p.Lys189=
XM_011520304.1:c.565A=	XP_011518606.1:p.Lys189=
XR_930886.1:n.863A=
NM_001318087.1:c.565A=	NP_001305016.1:p.Lys189=
NM_001318088.1:c.-397A=	NP_001305017.1:n.-397A=
NM_001365135.1:c.565A=	NP_001352064.1:p.Lys189=
NR_027400.2:n.750A=
NR_134502.1:n.623+127A=
XM_011520304.2:c.565A=	XP_011518606.1:p.Lys189=
XR_001747940.2:n.690A=
XR_002957158.1:n.690A=
NM_000543.5:c.565A= MANE Select	NP_000534.3:p.Lys189=
NM_001007593.3:c.562A=	NP_001007594.2:p.Lys188=
NM_001318087.2:c.565A=	NP_001305016.1:p.Lys189=
NM_001318088.2:c.-397A=	NP_001305017.1:n.-397A=
NM_001365135.2:c.565A=	NP_001352064.1:p.Lys189=
NR_027400.3:n.690A=
NR_134502.2:n.563+127A=