Canonical Allele Identifier: CA2612224174

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394672-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394672C>A , CM000673.2:g.6394672C>A	GRCh38
NC_000011.9:g.6415902C>A , CM000673.1:g.6415902C>A	GRCh37
NC_000011.8:g.6372478C>A	NCBI36
NG_011780.1:g.9248C>A
NG_029615.1:g.29743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*65C>A MANE Select	ENSP00000340409.4:n.*65C>A
ENST00000342245.8:c.*65C>A	ENSP00000340409.4:n.*65C>A
ENST00000526280.1:c.1018C>A
ENST00000527275.5:c.*65C>A	ENSP00000435350.1:n.*65C>A
ENST00000531303.5:c.*812C>A	ENSP00000432625.1:n.*812C>A
ENST00000533123.5:c.*688C>A	ENSP00000435950.1:n.*688C>A
ENST00000534405.5:c.*792C>A	ENSP00000434353.1:n.*792C>A
NM_000543.4:c.*65C>A	NP_000534.3:n.*65C>A
NM_001007593.2:c.*65C>A	NP_001007594.2:n.*65C>A
XM_011520303.1:c.*65C>A	XP_011518605.1:n.*65C>A
NM_001318087.1:c.*454C>A	NP_001305016.1:n.*454C>A
NM_001318088.1:c.*65C>A	NP_001305017.1:n.*65C>A
NM_001365135.1:c.*65C>A	NP_001352064.1:n.*65C>A
NR_027400.2:n.1974C>A
NR_134502.1:n.1513C>A
XR_001747940.2:n.2146C>A
XR_002957158.1:n.2328C>A
NM_000543.5:c.*65C>A MANE Select	NP_000534.3:n.*65C>A
NM_001007593.3:c.*65C>A	NP_001007594.2:n.*65C>A
NM_001318087.2:c.*454C>A	NP_001305016.1:n.*454C>A
NM_001318088.2:c.*65C>A	NP_001305017.1:n.*65C>A
NM_001365135.2:c.*65C>A	NP_001352064.1:n.*65C>A
NR_027400.3:n.1914C>A
NR_134502.2:n.1453C>A