Canonical Allele Identifier: CA1950150474

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394826G= , CM000673.2:g.6394826G=	GRCh38
NC_000011.9:g.6416056G= , CM000673.1:g.6416056G=	GRCh37
NC_000011.8:g.6372632G=	NCBI36
NG_011780.1:g.9402G=
NG_029615.1:g.29589C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*219G= MANE Select	ENSP00000340409.4:n.*219G=
ENST00000342245.8:c.*219G=	ENSP00000340409.4:n.*219G=
ENST00000526280.1:c.1172G=
ENST00000533123.5:c.*842G=	ENSP00000435950.1:n.*842G=
ENST00000534405.5:c.*946G=	ENSP00000434353.1:n.*946G=
NM_000543.4:c.*219G=	NP_000534.3:n.*219G=
NM_001007593.2:c.*219G=	NP_001007594.2:n.*219G=
XM_011520303.1:c.*219G=	XP_011518605.1:n.*219G=
NM_001318087.1:c.*608G=	NP_001305016.1:n.*608G=
NM_001318088.1:c.*219G=	NP_001305017.1:n.*219G=
NM_001365135.1:c.*219G=	NP_001352064.1:n.*219G=
NR_027400.2:n.2128G=
NR_134502.1:n.1667G=
XR_001747940.2:n.2300G=
XR_002957158.1:n.2482G=
NM_000543.5:c.*219G= MANE Select	NP_000534.3:n.*219G=
NM_001007593.3:c.*219G=	NP_001007594.2:n.*219G=
NM_001318087.2:c.*608G=	NP_001305016.1:n.*608G=
NM_001318088.2:c.*219G=	NP_001305017.1:n.*219G=
NM_001365135.2:c.*219G=	NP_001352064.1:n.*219G=
NR_027400.3:n.2068G=
NR_134502.2:n.1607G=