Canonical Allele Identifier: CA217302077

Gene: SMPD1

Linked Data

• dbSNP Id: rs559092380
• MyVariant Identifiers: chr11:g.6414920C>T (hg19) ; chr11:g.6393690C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393690C>T , CM000673.2:g.6393690C>T	GRCh38
NC_000011.9:g.6414920C>T , CM000673.1:g.6414920C>T	GRCh37
NC_000011.8:g.6371496C>T	NCBI36
NG_011780.1:g.8266C>T
NG_029615.1:g.30725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1337C>T MANE Select	ENSP00000340409.4:p.Ala446Val
ENST00000342245.8:c.1337C>T	ENSP00000340409.4:p.Ala446Val
ENST00000526280.1:c.394C>T
ENST00000527275.5:c.1334C>T	ENSP00000435350.1:p.Ala445Val
ENST00000531303.5:c.*168C>T	ENSP00000432625.1:n.*168C>T
ENST00000531336.1:n.169C>T
ENST00000532367.1:n.173C>T
ENST00000533123.5:c.*64C>T	ENSP00000435950.1:n.*64C>T
ENST00000534405.5:c.*168C>T	ENSP00000434353.1:n.*168C>T
NM_000543.4:c.1337C>T	NP_000534.3:p.Ala446Val
NM_001007593.2:c.1334C>T	NP_001007594.2:p.Ala445Val
XM_005253075.3:c.1337C>T	XP_005253132.1:p.Ala446Val
XM_011520303.1:c.1205C>T	XP_011518605.1:p.Ala402Val
XM_011520304.1:c.1205C>T	XP_011518606.1:p.Ala402Val
XR_930886.1:n.1675C>T
NM_001318087.1:c.1337C>T	NP_001305016.1:p.Ala446Val
NM_001318088.1:c.416C>T	NP_001305017.1:p.Ala139Val
NM_001365135.1:c.1205C>T	NP_001352064.1:p.Ala402Val
NR_027400.2:n.1350C>T
NR_134502.1:n.869C>T
XM_011520304.2:c.1205C>T	XP_011518606.1:p.Ala402Val
XR_001747940.2:n.1502C>T
XR_002957158.1:n.1502C>T
NM_000543.5:c.1337C>T MANE Select	NP_000534.3:p.Ala446Val
NM_001007593.3:c.1334C>T	NP_001007594.2:p.Ala445Val
NM_001318087.2:c.1337C>T	NP_001305016.1:p.Ala446Val
NM_001318088.2:c.416C>T	NP_001305017.1:p.Ala139Val
NM_001365135.2:c.1205C>T	NP_001352064.1:p.Ala402Val
NR_027400.3:n.1290C>T
NR_134502.2:n.809C>T