Canonical Allele Identifier: CA379374472

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414899G>T (hg19) ; chr11:g.6393669G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393669G>T , CM000673.2:g.6393669G>T	GRCh38
NC_000011.9:g.6414899G>T , CM000673.1:g.6414899G>T	GRCh37
NC_000011.8:g.6371475G>T	NCBI36
NG_011780.1:g.8245G>T
NG_029615.1:g.30746C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1316G>T MANE Select	ENSP00000340409.4:p.Trp439Leu
ENST00000342245.8:c.1316G>T	ENSP00000340409.4:p.Trp439Leu
ENST00000526280.1:c.373G>T
ENST00000527275.5:c.1313G>T	ENSP00000435350.1:p.Trp438Leu
ENST00000531303.5:c.*147G>T	ENSP00000432625.1:n.*147G>T
ENST00000531336.1:n.148G>T
ENST00000532367.1:n.152G>T
ENST00000533123.5:c.*43G>T	ENSP00000435950.1:n.*43G>T
ENST00000534405.5:c.*147G>T	ENSP00000434353.1:n.*147G>T
NM_000543.4:c.1316G>T	NP_000534.3:p.Trp439Leu
NM_001007593.2:c.1313G>T	NP_001007594.2:p.Trp438Leu
XM_005253075.3:c.1316G>T	XP_005253132.1:p.Trp439Leu
XM_011520303.1:c.1184G>T	XP_011518605.1:p.Trp395Leu
XM_011520304.1:c.1184G>T	XP_011518606.1:p.Trp395Leu
XR_930886.1:n.1654G>T
NM_001318087.1:c.1316G>T	NP_001305016.1:p.Trp439Leu
NM_001318088.1:c.395G>T	NP_001305017.1:p.Trp132Leu
NM_001365135.1:c.1184G>T	NP_001352064.1:p.Trp395Leu
NR_027400.2:n.1329G>T
NR_134502.1:n.848G>T
XM_011520304.2:c.1184G>T	XP_011518606.1:p.Trp395Leu
XR_001747940.2:n.1481G>T
XR_002957158.1:n.1481G>T
NM_000543.5:c.1316G>T MANE Select	NP_000534.3:p.Trp439Leu
NM_001007593.3:c.1313G>T	NP_001007594.2:p.Trp438Leu
NM_001318087.2:c.1316G>T	NP_001305016.1:p.Trp439Leu
NM_001318088.2:c.395G>T	NP_001305017.1:p.Trp132Leu
NM_001365135.2:c.1184G>T	NP_001352064.1:p.Trp395Leu
NR_027400.3:n.1269G>T
NR_134502.2:n.788G>T