Canonical Allele Identifier: CA1950150398

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848115265
• gnomAD v4: 11-6394738-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394738A>T , CM000673.2:g.6394738A>T	GRCh38
NC_000011.9:g.6415968A>T , CM000673.1:g.6415968A>T	GRCh37
NC_000011.8:g.6372544A>T	NCBI36
NG_011780.1:g.9314A>T
NG_029615.1:g.29677T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*131A>T MANE Select	ENSP00000340409.4:n.*131A>T
ENST00000342245.8:c.*131A>T	ENSP00000340409.4:n.*131A>T
ENST00000526280.1:c.1084A>T
ENST00000527275.5:c.*131A>T	ENSP00000435350.1:n.*131A>T
ENST00000531303.5:c.*878A>T	ENSP00000432625.1:n.*878A>T
ENST00000533123.5:c.*754A>T	ENSP00000435950.1:n.*754A>T
ENST00000534405.5:c.*858A>T	ENSP00000434353.1:n.*858A>T
NM_000543.4:c.*131A>T	NP_000534.3:n.*131A>T
NM_001007593.2:c.*131A>T	NP_001007594.2:n.*131A>T
XM_011520303.1:c.*131A>T	XP_011518605.1:n.*131A>T
NM_001318087.1:c.*520A>T	NP_001305016.1:n.*520A>T
NM_001318088.1:c.*131A>T	NP_001305017.1:n.*131A>T
NM_001365135.1:c.*131A>T	NP_001352064.1:n.*131A>T
NR_027400.2:n.2040A>T
NR_134502.1:n.1579A>T
XR_001747940.2:n.2212A>T
XR_002957158.1:n.2394A>T
NM_000543.5:c.*131A>T MANE Select	NP_000534.3:n.*131A>T
NM_001007593.3:c.*131A>T	NP_001007594.2:n.*131A>T
NM_001318087.2:c.*520A>T	NP_001305016.1:n.*520A>T
NM_001318088.2:c.*131A>T	NP_001305017.1:n.*131A>T
NM_001365135.2:c.*131A>T	NP_001352064.1:n.*131A>T
NR_027400.3:n.1980A>T
NR_134502.2:n.1519A>T