Canonical Allele Identifier: CA2590997992

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134025735
• gnomAD v3: 11-6394832-T-C
• gnomAD v4: 11-6394832-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394832T>C , CM000673.2:g.6394832T>C	GRCh38
NC_000011.9:g.6416062T>C , CM000673.1:g.6416062T>C	GRCh37
NC_000011.8:g.6372638T>C	NCBI36
NG_011780.1:g.9408T>C
NG_029615.1:g.29583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*225T>C MANE Select	ENSP00000340409.4:n.*225T>C
ENST00000342245.8:c.*225T>C	ENSP00000340409.4:n.*225T>C
ENST00000526280.1:c.1178T>C
ENST00000533123.5:c.*848T>C	ENSP00000435950.1:n.*848T>C
ENST00000534405.5:c.*952T>C	ENSP00000434353.1:n.*952T>C
NM_000543.4:c.*225T>C	NP_000534.3:n.*225T>C
NM_001007593.2:c.*225T>C	NP_001007594.2:n.*225T>C
XM_011520303.1:c.*225T>C	XP_011518605.1:n.*225T>C
NM_001318087.1:c.*614T>C	NP_001305016.1:n.*614T>C
NM_001318088.1:c.*225T>C	NP_001305017.1:n.*225T>C
NM_001365135.1:c.*225T>C	NP_001352064.1:n.*225T>C
NR_027400.2:n.2134T>C
NR_134502.1:n.1673T>C
XR_001747940.2:n.2306T>C
XR_002957158.1:n.2488T>C
NM_000543.5:c.*225T>C MANE Select	NP_000534.3:n.*225T>C
NM_001007593.3:c.*225T>C	NP_001007594.2:n.*225T>C
NM_001318087.2:c.*614T>C	NP_001305016.1:n.*614T>C
NM_001318088.2:c.*225T>C	NP_001305017.1:n.*225T>C
NM_001365135.2:c.*225T>C	NP_001352064.1:n.*225T>C
NR_027400.3:n.2074T>C
NR_134502.2:n.1613T>C