Canonical Allele Identifier: CA1950150364

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394714C= , CM000673.2:g.6394714C=	GRCh38
NC_000011.9:g.6415944C= , CM000673.1:g.6415944C=	GRCh37
NC_000011.8:g.6372520C=	NCBI36
NG_011780.1:g.9290C=
NG_029615.1:g.29701G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*107C= MANE Select	ENSP00000340409.4:n.*107C=
ENST00000342245.8:c.*107C=	ENSP00000340409.4:n.*107C=
ENST00000526280.1:c.1060C=
ENST00000527275.5:c.*107C=	ENSP00000435350.1:n.*107C=
ENST00000531303.5:c.*854C=	ENSP00000432625.1:n.*854C=
ENST00000533123.5:c.*730C=	ENSP00000435950.1:n.*730C=
ENST00000534405.5:c.*834C=	ENSP00000434353.1:n.*834C=
NM_000543.4:c.*107C=	NP_000534.3:n.*107C=
NM_001007593.2:c.*107C=	NP_001007594.2:n.*107C=
XM_011520303.1:c.*107C=	XP_011518605.1:n.*107C=
NM_001318087.1:c.*496C=	NP_001305016.1:n.*496C=
NM_001318088.1:c.*107C=	NP_001305017.1:n.*107C=
NM_001365135.1:c.*107C=	NP_001352064.1:n.*107C=
NR_027400.2:n.2016C=
NR_134502.1:n.1555C=
XR_001747940.2:n.2188C=
XR_002957158.1:n.2370C=
NM_000543.5:c.*107C= MANE Select	NP_000534.3:n.*107C=
NM_001007593.3:c.*107C=	NP_001007594.2:n.*107C=
NM_001318087.2:c.*496C=	NP_001305016.1:n.*496C=
NM_001318088.2:c.*107C=	NP_001305017.1:n.*107C=
NM_001365135.2:c.*107C=	NP_001352064.1:n.*107C=
NR_027400.3:n.1956C=
NR_134502.2:n.1495C=