Canonical Allele Identifier: CA1950150568

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848123082

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394930C>A , CM000673.2:g.6394930C>A	GRCh38
NC_000011.9:g.6416160C>A , CM000673.1:g.6416160C>A	GRCh37
NC_000011.8:g.6372736C>A	NCBI36
NG_011780.1:g.9506C>A
NG_029615.1:g.29485G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*323C>A MANE Select	ENSP00000340409.4:n.*323C>A
ENST00000342245.8:c.*323C>A	ENSP00000340409.4:n.*323C>A
ENST00000526280.1:c.1276C>A
ENST00000533123.5:c.*946C>A	ENSP00000435950.1:n.*946C>A
ENST00000534405.5:c.*1050C>A	ENSP00000434353.1:n.*1050C>A
NM_000543.4:c.*323C>A	NP_000534.3:n.*323C>A
NM_001007593.2:c.*323C>A	NP_001007594.2:n.*323C>A
XM_011520303.1:c.*323C>A	XP_011518605.1:n.*323C>A
NM_001318087.1:c.*712C>A	NP_001305016.1:n.*712C>A
NM_001318088.1:c.*323C>A	NP_001305017.1:n.*323C>A
NM_001365135.1:c.*323C>A	NP_001352064.1:n.*323C>A
NR_027400.2:n.2232C>A
NR_134502.1:n.1771C>A
XR_001747940.2:n.2404C>A
XR_002957158.1:n.2586C>A
NM_000543.5:c.*323C>A MANE Select	NP_000534.3:n.*323C>A
NM_001007593.3:c.*323C>A	NP_001007594.2:n.*323C>A
NM_001318087.2:c.*712C>A	NP_001305016.1:n.*712C>A
NM_001318088.2:c.*323C>A	NP_001305017.1:n.*323C>A
NM_001365135.2:c.*323C>A	NP_001352064.1:n.*323C>A
NR_027400.3:n.2172C>A
NR_134502.2:n.1711C>A