Canonical Allele Identifier: CA379376898

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415663T>A (hg19) ; chr11:g.6394433T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394433T>A , CM000673.2:g.6394433T>A	GRCh38
NC_000011.9:g.6415663T>A , CM000673.1:g.6415663T>A	GRCh37
NC_000011.8:g.6372239T>A	NCBI36
NG_011780.1:g.9009T>A
NG_029615.1:g.29982A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1722T>A MANE Select	ENSP00000340409.4:p.Phe574Leu
ENST00000342245.8:c.1722T>A	ENSP00000340409.4:p.Phe574Leu
ENST00000526280.1:c.779T>A
ENST00000527275.5:c.1719T>A	ENSP00000435350.1:p.Phe573Leu
ENST00000531303.5:c.*573T>A	ENSP00000432625.1:n.*573T>A
ENST00000533123.5:c.*449T>A	ENSP00000435950.1:n.*449T>A
ENST00000534405.5:c.*553T>A	ENSP00000434353.1:n.*553T>A
NM_000543.4:c.1722T>A	NP_000534.3:p.Phe574Leu
NM_001007593.2:c.1719T>A	NP_001007594.2:p.Phe573Leu
XM_005253075.3:c.*215T>A	XP_005253132.1:n.*215T>A
XM_011520303.1:c.1590T>A	XP_011518605.1:p.Phe530Leu
XM_011520304.1:c.*215T>A	XP_011518606.1:n.*215T>A
NM_001318087.1:c.*215T>A	NP_001305016.1:n.*215T>A
NM_001318088.1:c.801T>A	NP_001305017.1:p.Phe267Leu
NM_001365135.1:c.1590T>A	NP_001352064.1:p.Phe530Leu
NR_027400.2:n.1735T>A
NR_134502.1:n.1274T>A
XM_011520304.2:c.*215T>A	XP_011518606.1:n.*215T>A
XR_001747940.2:n.1907T>A
XR_002957158.1:n.2089T>A
NM_000543.5:c.1722T>A MANE Select	NP_000534.3:p.Phe574Leu
NM_001007593.3:c.1719T>A	NP_001007594.2:p.Phe573Leu
NM_001318087.2:c.*215T>A	NP_001305016.1:n.*215T>A
NM_001318088.2:c.801T>A	NP_001305017.1:p.Phe267Leu
NM_001365135.2:c.1590T>A	NP_001352064.1:p.Phe530Leu
NR_027400.3:n.1675T>A
NR_134502.2:n.1214T>A