Canonical Allele Identifier: CA379369778

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6412814C>A (hg19) ; chr11:g.6391584C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391584C>A , CM000673.2:g.6391584C>A	GRCh38
NC_000011.9:g.6412814C>A , CM000673.1:g.6412814C>A	GRCh37
NC_000011.8:g.6369390C>A	NCBI36
NG_011780.1:g.6160C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.519C>A MANE Select	ENSP00000340409.4:p.Phe173Leu
ENST00000342245.8:c.519C>A	ENSP00000340409.4:p.Phe173Leu
ENST00000527275.5:c.516C>A	ENSP00000435350.1:p.Phe172Leu
ENST00000530395.1:c.-95-206C>A	ENSP00000431479.1:n.-95-206C>A
ENST00000531303.5:c.438+81C>A	ENSP00000432625.1:n.438+81C>A
ENST00000533123.5:c.519C>A	ENSP00000435950.1:p.Phe173Leu
ENST00000533196.1:n.375-422C>A
ENST00000534405.5:c.519C>A	ENSP00000434353.1:p.Phe173Leu
NM_000543.4:c.519C>A	NP_000534.3:p.Phe173Leu
NM_001007593.2:c.516C>A	NP_001007594.2:p.Phe172Leu
XM_005253075.3:c.519C>A	XP_005253132.1:p.Phe173Leu
XM_011520303.1:c.519C>A	XP_011518605.1:p.Phe173Leu
XM_011520304.1:c.519C>A	XP_011518606.1:p.Phe173Leu
XR_930886.1:n.817C>A
NM_001318087.1:c.519C>A	NP_001305016.1:p.Phe173Leu
NM_001318088.1:c.-443C>A	NP_001305017.1:n.-443C>A
NM_001365135.1:c.519C>A	NP_001352064.1:p.Phe173Leu
NR_027400.2:n.704C>A
NR_134502.1:n.623+81C>A
XM_011520304.2:c.519C>A	XP_011518606.1:p.Phe173Leu
XR_001747940.2:n.644C>A
XR_002957158.1:n.644C>A
NM_000543.5:c.519C>A MANE Select	NP_000534.3:p.Phe173Leu
NM_001007593.3:c.516C>A	NP_001007594.2:p.Phe172Leu
NM_001318087.2:c.519C>A	NP_001305016.1:p.Phe173Leu
NM_001318088.2:c.-443C>A	NP_001305017.1:n.-443C>A
NM_001365135.2:c.519C>A	NP_001352064.1:p.Phe173Leu
NR_027400.3:n.644C>A
NR_134502.2:n.563+81C>A