Canonical Allele Identifier: CA2612224216

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394724-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394724C>A , CM000673.2:g.6394724C>A	GRCh38
NC_000011.9:g.6415954C>A , CM000673.1:g.6415954C>A	GRCh37
NC_000011.8:g.6372530C>A	NCBI36
NG_011780.1:g.9300C>A
NG_029615.1:g.29691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*117C>A MANE Select	ENSP00000340409.4:n.*117C>A
ENST00000342245.8:c.*117C>A	ENSP00000340409.4:n.*117C>A
ENST00000526280.1:c.1070C>A
ENST00000527275.5:c.*117C>A	ENSP00000435350.1:n.*117C>A
ENST00000531303.5:c.*864C>A	ENSP00000432625.1:n.*864C>A
ENST00000533123.5:c.*740C>A	ENSP00000435950.1:n.*740C>A
ENST00000534405.5:c.*844C>A	ENSP00000434353.1:n.*844C>A
NM_000543.4:c.*117C>A	NP_000534.3:n.*117C>A
NM_001007593.2:c.*117C>A	NP_001007594.2:n.*117C>A
XM_011520303.1:c.*117C>A	XP_011518605.1:n.*117C>A
NM_001318087.1:c.*506C>A	NP_001305016.1:n.*506C>A
NM_001318088.1:c.*117C>A	NP_001305017.1:n.*117C>A
NM_001365135.1:c.*117C>A	NP_001352064.1:n.*117C>A
NR_027400.2:n.2026C>A
NR_134502.1:n.1565C>A
XR_001747940.2:n.2198C>A
XR_002957158.1:n.2380C>A
NM_000543.5:c.*117C>A MANE Select	NP_000534.3:n.*117C>A
NM_001007593.3:c.*117C>A	NP_001007594.2:n.*117C>A
NM_001318087.2:c.*506C>A	NP_001305016.1:n.*506C>A
NM_001318088.2:c.*117C>A	NP_001305017.1:n.*117C>A
NM_001365135.2:c.*117C>A	NP_001352064.1:n.*117C>A
NR_027400.3:n.1966C>A
NR_134502.2:n.1505C>A