Canonical Allele Identifier: CA379371479

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392045-A-G
• MyVariant Identifiers: chr11:g.6413275A>G (hg19) ; chr11:g.6392045A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392045A>G , CM000673.2:g.6392045A>G	GRCh38
NC_000011.9:g.6413275A>G , CM000673.1:g.6413275A>G	GRCh37
NC_000011.8:g.6369851A>G	NCBI36
NG_011780.1:g.6621A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.980A>G MANE Select	ENSP00000340409.4:p.Asn327Ser
ENST00000342245.8:c.980A>G	ENSP00000340409.4:p.Asn327Ser
ENST00000526280.1:c.169A>G
ENST00000527275.5:c.977A>G	ENSP00000435350.1:p.Asn326Ser
ENST00000531303.5:c.438+542A>G	ENSP00000432625.1:n.438+542A>G
ENST00000533123.5:c.980A>G	ENSP00000435950.1:p.Asn327Ser
ENST00000533196.1:n.414A>G
ENST00000534405.5:c.980A>G	ENSP00000434353.1:p.Asn327Ser
NM_000543.4:c.980A>G	NP_000534.3:p.Asn327Ser
NM_001007593.2:c.977A>G	NP_001007594.2:p.Asn326Ser
XM_005253075.3:c.980A>G	XP_005253132.1:p.Asn327Ser
XM_011520303.1:c.980A>G	XP_011518605.1:p.Asn327Ser
XM_011520304.1:c.980A>G	XP_011518606.1:p.Asn327Ser
XR_930886.1:n.1278A>G
NM_001318087.1:c.980A>G	NP_001305016.1:p.Asn327Ser
NM_001318088.1:c.19A>G	NP_001305017.1:p.Ile7Val
NM_001365135.1:c.980A>G	NP_001352064.1:p.Asn327Ser
NR_027400.2:n.1165A>G
NR_134502.1:n.623+542A>G
XM_011520304.2:c.980A>G	XP_011518606.1:p.Asn327Ser
XR_001747940.2:n.1105A>G
XR_002957158.1:n.1105A>G
NM_000543.5:c.980A>G MANE Select	NP_000534.3:p.Asn327Ser
NM_001007593.3:c.977A>G	NP_001007594.2:p.Asn326Ser
NM_001318087.2:c.980A>G	NP_001305016.1:p.Asn327Ser
NM_001318088.2:c.19A>G	NP_001305017.1:p.Ile7Val
NM_001365135.2:c.980A>G	NP_001352064.1:p.Asn327Ser
NR_027400.3:n.1105A>G
NR_134502.2:n.563+542A>G