Canonical Allele Identifier: CA1950150586

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394948A= , CM000673.2:g.6394948A=	GRCh38
NC_000011.9:g.6416178A= , CM000673.1:g.6416178A=	GRCh37
NC_000011.8:g.6372754A=	NCBI36
NG_011780.1:g.9524A=
NG_029615.1:g.29467T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*341A= MANE Select	ENSP00000340409.4:n.*341A=
ENST00000342245.8:c.*341A=	ENSP00000340409.4:n.*341A=
ENST00000526280.1:c.1294A=
ENST00000533123.5:c.*964A=	ENSP00000435950.1:n.*964A=
ENST00000534405.5:c.*1068A=	ENSP00000434353.1:n.*1068A=
NM_000543.4:c.*341A=	NP_000534.3:n.*341A=
NM_001007593.2:c.*341A=	NP_001007594.2:n.*341A=
XM_011520303.1:c.*341A=	XP_011518605.1:n.*341A=
NM_001318087.1:c.*730A=	NP_001305016.1:n.*730A=
NM_001318088.1:c.*341A=	NP_001305017.1:n.*341A=
NM_001365135.1:c.*341A=	NP_001352064.1:n.*341A=
NR_027400.2:n.2250A=
NR_134502.1:n.1789A=
XR_001747940.2:n.2422A=
XR_002957158.1:n.2604A=
NM_000543.5:c.*341A= MANE Select	NP_000534.3:n.*341A=
NM_001007593.3:c.*341A=	NP_001007594.2:n.*341A=
NM_001318087.2:c.*730A=	NP_001305016.1:n.*730A=
NM_001318088.2:c.*341A=	NP_001305017.1:n.*341A=
NM_001365135.2:c.*341A=	NP_001352064.1:n.*341A=
NR_027400.3:n.2190A=
NR_134502.2:n.1729A=