Canonical Allele Identifier: CA1950150209

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394590A= , CM000673.2:g.6394590A=	GRCh38
NC_000011.9:g.6415820A= , CM000673.1:g.6415820A=	GRCh37
NC_000011.8:g.6372396A=	NCBI36
NG_011780.1:g.9166A=
NG_029615.1:g.29825T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1879A= MANE Select	ENSP00000340409.4:p.Arg627=
ENST00000342245.8:c.1879A=	ENSP00000340409.4:p.Arg627=
ENST00000526280.1:c.936A=
ENST00000527275.5:c.1876A=	ENSP00000435350.1:p.Arg626=
ENST00000531303.5:c.*730A=	ENSP00000432625.1:n.*730A=
ENST00000533123.5:c.*606A=	ENSP00000435950.1:n.*606A=
ENST00000534405.5:c.*710A=	ENSP00000434353.1:n.*710A=
NM_000543.4:c.1879A=	NP_000534.3:p.Arg627=
NM_001007593.2:c.1876A=	NP_001007594.2:p.Arg626=
XM_005253075.3:c.*372A=	XP_005253132.1:n.*372A=
XM_011520303.1:c.1747A=	XP_011518605.1:p.Arg583=
NM_001318087.1:c.*372A=	NP_001305016.1:n.*372A=
NM_001318088.1:c.958A=	NP_001305017.1:p.Arg320=
NM_001365135.1:c.1747A=	NP_001352064.1:p.Arg583=
NR_027400.2:n.1892A=
NR_134502.1:n.1431A=
XR_001747940.2:n.2064A=
XR_002957158.1:n.2246A=
NM_000543.5:c.1879A= MANE Select	NP_000534.3:p.Arg627=
NM_001007593.3:c.1876A=	NP_001007594.2:p.Arg626=
NM_001318087.2:c.*372A=	NP_001305016.1:n.*372A=
NM_001318088.2:c.958A=	NP_001305017.1:p.Arg320=
NM_001365135.2:c.1747A=	NP_001352064.1:p.Arg583=
NR_027400.3:n.1832A=
NR_134502.2:n.1371A=