Canonical Allele Identifier: CA934769695

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848110550
• gnomAD v3: 11-6394671-G-A
• gnomAD v4: 11-6394671-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394671G>A , CM000673.2:g.6394671G>A	GRCh38
NC_000011.9:g.6415901G>A , CM000673.1:g.6415901G>A	GRCh37
NC_000011.8:g.6372477G>A	NCBI36
NG_011780.1:g.9247G>A
NG_029615.1:g.29744C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*64G>A MANE Select	ENSP00000340409.4:n.*64G>A
ENST00000342245.8:c.*64G>A	ENSP00000340409.4:n.*64G>A
ENST00000526280.1:c.1017G>A
ENST00000527275.5:c.*64G>A	ENSP00000435350.1:n.*64G>A
ENST00000531303.5:c.*811G>A	ENSP00000432625.1:n.*811G>A
ENST00000533123.5:c.*687G>A	ENSP00000435950.1:n.*687G>A
ENST00000534405.5:c.*791G>A	ENSP00000434353.1:n.*791G>A
NM_000543.4:c.*64G>A	NP_000534.3:n.*64G>A
NM_001007593.2:c.*64G>A	NP_001007594.2:n.*64G>A
XM_011520303.1:c.*64G>A	XP_011518605.1:n.*64G>A
NM_001318087.1:c.*453G>A	NP_001305016.1:n.*453G>A
NM_001318088.1:c.*64G>A	NP_001305017.1:n.*64G>A
NM_001365135.1:c.*64G>A	NP_001352064.1:n.*64G>A
NR_027400.2:n.1973G>A
NR_134502.1:n.1512G>A
XR_001747940.2:n.2145G>A
XR_002957158.1:n.2327G>A
NM_000543.5:c.*64G>A MANE Select	NP_000534.3:n.*64G>A
NM_001007593.3:c.*64G>A	NP_001007594.2:n.*64G>A
NM_001318087.2:c.*453G>A	NP_001305016.1:n.*453G>A
NM_001318088.2:c.*64G>A	NP_001305017.1:n.*64G>A
NM_001365135.2:c.*64G>A	NP_001352064.1:n.*64G>A
NR_027400.3:n.1913G>A
NR_134502.2:n.1452G>A