Canonical Allele Identifier: CA379373063

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1918617
• ClinVar RCV Id: RCV002602064
• gnomAD v4: 11-6393278-A-T
• MyVariant Identifiers: chr11:g.6414508A>T (hg19) ; chr11:g.6393278A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393278A>T , CM000673.2:g.6393278A>T	GRCh38
NC_000011.9:g.6414508A>T , CM000673.1:g.6414508A>T	GRCh37
NC_000011.8:g.6371084A>T	NCBI36
NG_011780.1:g.7854A>T
NG_029615.1:g.31137T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1154A>T MANE Select	ENSP00000340409.4:p.Asn385Ile
ENST00000342245.8:c.1154A>T	ENSP00000340409.4:p.Asn385Ile
ENST00000526280.1:c.321-339A>T
ENST00000527275.5:c.1151A>T	ENSP00000435350.1:p.Asn384Ile
ENST00000531303.5:c.501A>T	ENSP00000432625.1:p.Glu167Asp
ENST00000533123.5:c.1092-339A>T	ENSP00000435950.1:n.1092-339A>T
ENST00000534405.5:c.1194A>T	ENSP00000434353.1:p.Glu398Asp
NM_000543.4:c.1154A>T	NP_000534.3:p.Asn385Ile
NM_001007593.2:c.1151A>T	NP_001007594.2:p.Asn384Ile
XM_005253075.3:c.1154A>T	XP_005253132.1:p.Asn385Ile
XM_011520303.1:c.1132-339A>T	XP_011518605.1:n.1132-339A>T
XM_011520304.1:c.1132-339A>T	XP_011518606.1:n.1132-339A>T
XR_930886.1:n.1492A>T
NM_001318087.1:c.1154A>T	NP_001305016.1:p.Asn385Ile
NM_001318088.1:c.233A>T	NP_001305017.1:p.Asn78Ile
NM_001365135.1:c.1132-339A>T	NP_001352064.1:n.1132-339A>T
NR_027400.2:n.1277-339A>T
NR_134502.1:n.686A>T
XM_011520304.2:c.1132-339A>T	XP_011518606.1:n.1132-339A>T
XR_001747940.2:n.1319A>T
XR_002957158.1:n.1319A>T
NM_000543.5:c.1154A>T MANE Select	NP_000534.3:p.Asn385Ile
NM_001007593.3:c.1151A>T	NP_001007594.2:p.Asn384Ile
NM_001318087.2:c.1154A>T	NP_001305016.1:p.Asn385Ile
NM_001318088.2:c.233A>T	NP_001305017.1:p.Asn78Ile
NM_001365135.2:c.1132-339A>T	NP_001352064.1:n.1132-339A>T
NR_027400.3:n.1217-339A>T
NR_134502.2:n.626A>T