Canonical Allele Identifier: CA379375074

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415184G>T (hg19) ; chr11:g.6393954G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393954G>T , CM000673.2:g.6393954G>T	GRCh38
NC_000011.9:g.6415184G>T , CM000673.1:g.6415184G>T	GRCh37
NC_000011.8:g.6371760G>T	NCBI36
NG_011780.1:g.8530G>T
NG_029615.1:g.30461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1399G>T MANE Select	ENSP00000340409.4:p.Val467Phe
ENST00000342245.8:c.1399G>T	ENSP00000340409.4:p.Val467Phe
ENST00000526280.1:c.456G>T
ENST00000527275.5:c.1396G>T	ENSP00000435350.1:p.Val466Phe
ENST00000531303.5:c.*230G>T	ENSP00000432625.1:n.*230G>T
ENST00000531336.1:n.231G>T
ENST00000532367.1:n.235G>T
ENST00000533123.5:c.*126G>T	ENSP00000435950.1:n.*126G>T
ENST00000534405.5:c.*230G>T	ENSP00000434353.1:n.*230G>T
NM_000543.4:c.1399G>T	NP_000534.3:p.Val467Phe
NM_001007593.2:c.1396G>T	NP_001007594.2:p.Val466Phe
XM_005253075.3:c.1399G>T	XP_005253132.1:p.Val467Phe
XM_011520303.1:c.1267G>T	XP_011518605.1:p.Val423Phe
XM_011520304.1:c.1267G>T	XP_011518606.1:p.Val423Phe
XR_930886.1:n.1737G>T
NM_001318087.1:c.1399G>T	NP_001305016.1:p.Val467Phe
NM_001318088.1:c.478G>T	NP_001305017.1:p.Val160Phe
NM_001365135.1:c.1267G>T	NP_001352064.1:p.Val423Phe
NR_027400.2:n.1412G>T
NR_134502.1:n.931G>T
XM_011520304.2:c.1267G>T	XP_011518606.1:p.Val423Phe
XR_001747940.2:n.1564G>T
XR_002957158.1:n.1766G>T
NM_000543.5:c.1399G>T MANE Select	NP_000534.3:p.Val467Phe
NM_001007593.3:c.1396G>T	NP_001007594.2:p.Val466Phe
NM_001318087.2:c.1399G>T	NP_001305016.1:p.Val467Phe
NM_001318088.2:c.478G>T	NP_001305017.1:p.Val160Phe
NM_001365135.2:c.1267G>T	NP_001352064.1:p.Val423Phe
NR_027400.3:n.1352G>T
NR_134502.2:n.871G>T