Canonical Allele Identifier: CA379374581

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414917T>A (hg19) ; chr11:g.6393687T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393687T>A , CM000673.2:g.6393687T>A	GRCh38
NC_000011.9:g.6414917T>A , CM000673.1:g.6414917T>A	GRCh37
NC_000011.8:g.6371493T>A	NCBI36
NG_011780.1:g.8263T>A
NG_029615.1:g.30728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1334T>A MANE Select	ENSP00000340409.4:p.Val445Glu
ENST00000342245.8:c.1334T>A	ENSP00000340409.4:p.Val445Glu
ENST00000526280.1:c.391T>A
ENST00000527275.5:c.1331T>A	ENSP00000435350.1:p.Val444Glu
ENST00000531303.5:c.*165T>A	ENSP00000432625.1:n.*165T>A
ENST00000531336.1:n.166T>A
ENST00000532367.1:n.170T>A
ENST00000533123.5:c.*61T>A	ENSP00000435950.1:n.*61T>A
ENST00000534405.5:c.*165T>A	ENSP00000434353.1:n.*165T>A
NM_000543.4:c.1334T>A	NP_000534.3:p.Val445Glu
NM_001007593.2:c.1331T>A	NP_001007594.2:p.Val444Glu
XM_005253075.3:c.1334T>A	XP_005253132.1:p.Val445Glu
XM_011520303.1:c.1202T>A	XP_011518605.1:p.Val401Glu
XM_011520304.1:c.1202T>A	XP_011518606.1:p.Val401Glu
XR_930886.1:n.1672T>A
NM_001318087.1:c.1334T>A	NP_001305016.1:p.Val445Glu
NM_001318088.1:c.413T>A	NP_001305017.1:p.Val138Glu
NM_001365135.1:c.1202T>A	NP_001352064.1:p.Val401Glu
NR_027400.2:n.1347T>A
NR_134502.1:n.866T>A
XM_011520304.2:c.1202T>A	XP_011518606.1:p.Val401Glu
XR_001747940.2:n.1499T>A
XR_002957158.1:n.1499T>A
NM_000543.5:c.1334T>A MANE Select	NP_000534.3:p.Val445Glu
NM_001007593.3:c.1331T>A	NP_001007594.2:p.Val444Glu
NM_001318087.2:c.1334T>A	NP_001305016.1:p.Val445Glu
NM_001318088.2:c.413T>A	NP_001305017.1:p.Val138Glu
NM_001365135.2:c.1202T>A	NP_001352064.1:p.Val401Glu
NR_027400.3:n.1287T>A
NR_134502.2:n.806T>A