Canonical Allele Identifier: CA379375942

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394230-T-G
• MyVariant Identifiers: chr11:g.6415460T>G (hg19) ; chr11:g.6394230T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394230T>G , CM000673.2:g.6394230T>G	GRCh38
NC_000011.9:g.6415460T>G , CM000673.1:g.6415460T>G	GRCh37
NC_000011.8:g.6372036T>G	NCBI36
NG_011780.1:g.8806T>G
NG_029615.1:g.30185A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1519T>G MANE Select	ENSP00000340409.4:p.Ser507Ala
ENST00000342245.8:c.1519T>G	ENSP00000340409.4:p.Ser507Ala
ENST00000526280.1:c.576T>G
ENST00000527275.5:c.1516T>G	ENSP00000435350.1:p.Ser506Ala
ENST00000531303.5:c.*370T>G	ENSP00000432625.1:n.*370T>G
ENST00000531336.1:n.507T>G
ENST00000533123.5:c.*246T>G	ENSP00000435950.1:n.*246T>G
ENST00000534405.5:c.*350T>G	ENSP00000434353.1:n.*350T>G
NM_000543.4:c.1519T>G	NP_000534.3:p.Ser507Ala
NM_001007593.2:c.1516T>G	NP_001007594.2:p.Ser506Ala
XM_005253075.3:c.*12T>G	XP_005253132.1:n.*12T>G
XM_011520303.1:c.1387T>G	XP_011518605.1:p.Ser463Ala
XM_011520304.1:c.*12T>G	XP_011518606.1:n.*12T>G
NM_001318087.1:c.*12T>G	NP_001305016.1:n.*12T>G
NM_001318088.1:c.598T>G	NP_001305017.1:p.Ser200Ala
NM_001365135.1:c.1387T>G	NP_001352064.1:p.Ser463Ala
NR_027400.2:n.1532T>G
NR_134502.1:n.1071T>G
XM_011520304.2:c.*12T>G	XP_011518606.1:n.*12T>G
XR_001747940.2:n.1704T>G
XR_002957158.1:n.1886T>G
NM_000543.5:c.1519T>G MANE Select	NP_000534.3:p.Ser507Ala
NM_001007593.3:c.1516T>G	NP_001007594.2:p.Ser506Ala
NM_001318087.2:c.*12T>G	NP_001305016.1:n.*12T>G
NM_001318088.2:c.598T>G	NP_001305017.1:p.Ser200Ala
NM_001365135.2:c.1387T>G	NP_001352064.1:p.Ser463Ala
NR_027400.3:n.1472T>G
NR_134502.2:n.1011T>G