Canonical Allele Identifier: CA2612224180

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394677-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394677G>A , CM000673.2:g.6394677G>A	GRCh38
NC_000011.9:g.6415907G>A , CM000673.1:g.6415907G>A	GRCh37
NC_000011.8:g.6372483G>A	NCBI36
NG_011780.1:g.9253G>A
NG_029615.1:g.29738C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*70G>A MANE Select	ENSP00000340409.4:n.*70G>A
ENST00000342245.8:c.*70G>A	ENSP00000340409.4:n.*70G>A
ENST00000526280.1:c.1023G>A
ENST00000527275.5:c.*70G>A	ENSP00000435350.1:n.*70G>A
ENST00000531303.5:c.*817G>A	ENSP00000432625.1:n.*817G>A
ENST00000533123.5:c.*693G>A	ENSP00000435950.1:n.*693G>A
ENST00000534405.5:c.*797G>A	ENSP00000434353.1:n.*797G>A
NM_000543.4:c.*70G>A	NP_000534.3:n.*70G>A
NM_001007593.2:c.*70G>A	NP_001007594.2:n.*70G>A
XM_011520303.1:c.*70G>A	XP_011518605.1:n.*70G>A
NM_001318087.1:c.*459G>A	NP_001305016.1:n.*459G>A
NM_001318088.1:c.*70G>A	NP_001305017.1:n.*70G>A
NM_001365135.1:c.*70G>A	NP_001352064.1:n.*70G>A
NR_027400.2:n.1979G>A
NR_134502.1:n.1518G>A
XR_001747940.2:n.2151G>A
XR_002957158.1:n.2333G>A
NM_000543.5:c.*70G>A MANE Select	NP_000534.3:n.*70G>A
NM_001007593.3:c.*70G>A	NP_001007594.2:n.*70G>A
NM_001318087.2:c.*459G>A	NP_001305016.1:n.*459G>A
NM_001318088.2:c.*70G>A	NP_001305017.1:n.*70G>A
NM_001365135.2:c.*70G>A	NP_001352064.1:n.*70G>A
NR_027400.3:n.1919G>A
NR_134502.2:n.1458G>A