Canonical Allele Identifier: CA379376003

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415468C>A (hg19) ; chr11:g.6394238C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394238C>A , CM000673.2:g.6394238C>A	GRCh38
NC_000011.9:g.6415468C>A , CM000673.1:g.6415468C>A	GRCh37
NC_000011.8:g.6372044C>A	NCBI36
NG_011780.1:g.8814C>A
NG_029615.1:g.30177G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1527C>A MANE Select	ENSP00000340409.4:p.Ser509Arg
ENST00000342245.8:c.1527C>A	ENSP00000340409.4:p.Ser509Arg
ENST00000526280.1:c.584C>A
ENST00000527275.5:c.1524C>A	ENSP00000435350.1:p.Ser508Arg
ENST00000531303.5:c.*378C>A	ENSP00000432625.1:n.*378C>A
ENST00000531336.1:n.515C>A
ENST00000533123.5:c.*254C>A	ENSP00000435950.1:n.*254C>A
ENST00000534405.5:c.*358C>A	ENSP00000434353.1:n.*358C>A
NM_000543.4:c.1527C>A	NP_000534.3:p.Ser509Arg
NM_001007593.2:c.1524C>A	NP_001007594.2:p.Ser508Arg
XM_005253075.3:c.*20C>A	XP_005253132.1:n.*20C>A
XM_011520303.1:c.1395C>A	XP_011518605.1:p.Ser465Arg
XM_011520304.1:c.*20C>A	XP_011518606.1:n.*20C>A
NM_001318087.1:c.*20C>A	NP_001305016.1:n.*20C>A
NM_001318088.1:c.606C>A	NP_001305017.1:p.Ser202Arg
NM_001365135.1:c.1395C>A	NP_001352064.1:p.Ser465Arg
NR_027400.2:n.1540C>A
NR_134502.1:n.1079C>A
XM_011520304.2:c.*20C>A	XP_011518606.1:n.*20C>A
XR_001747940.2:n.1712C>A
XR_002957158.1:n.1894C>A
NM_000543.5:c.1527C>A MANE Select	NP_000534.3:p.Ser509Arg
NM_001007593.3:c.1524C>A	NP_001007594.2:p.Ser508Arg
NM_001318087.2:c.*20C>A	NP_001305016.1:n.*20C>A
NM_001318088.2:c.606C>A	NP_001305017.1:p.Ser202Arg
NM_001365135.2:c.1395C>A	NP_001352064.1:p.Ser465Arg
NR_027400.3:n.1480C>A
NR_134502.2:n.1019C>A