Canonical Allele Identifier: CA2612224454

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394909-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394909C>A , CM000673.2:g.6394909C>A	GRCh38
NC_000011.9:g.6416139C>A , CM000673.1:g.6416139C>A	GRCh37
NC_000011.8:g.6372715C>A	NCBI36
NG_011780.1:g.9485C>A
NG_029615.1:g.29506G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*302C>A MANE Select	ENSP00000340409.4:n.*302C>A
ENST00000342245.8:c.*302C>A	ENSP00000340409.4:n.*302C>A
ENST00000526280.1:c.1255C>A
ENST00000533123.5:c.*925C>A	ENSP00000435950.1:n.*925C>A
ENST00000534405.5:c.*1029C>A	ENSP00000434353.1:n.*1029C>A
NM_000543.4:c.*302C>A	NP_000534.3:n.*302C>A
NM_001007593.2:c.*302C>A	NP_001007594.2:n.*302C>A
XM_011520303.1:c.*302C>A	XP_011518605.1:n.*302C>A
NM_001318087.1:c.*691C>A	NP_001305016.1:n.*691C>A
NM_001318088.1:c.*302C>A	NP_001305017.1:n.*302C>A
NM_001365135.1:c.*302C>A	NP_001352064.1:n.*302C>A
NR_027400.2:n.2211C>A
NR_134502.1:n.1750C>A
XR_001747940.2:n.2383C>A
XR_002957158.1:n.2565C>A
NM_000543.5:c.*302C>A MANE Select	NP_000534.3:n.*302C>A
NM_001007593.3:c.*302C>A	NP_001007594.2:n.*302C>A
NM_001318087.2:c.*691C>A	NP_001305016.1:n.*691C>A
NM_001318088.2:c.*302C>A	NP_001305017.1:n.*302C>A
NM_001365135.2:c.*302C>A	NP_001352064.1:n.*302C>A
NR_027400.3:n.2151C>A
NR_134502.2:n.1690C>A