Canonical Allele Identifier: CA379376351

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415518C>A (hg19) ; chr11:g.6394288C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394288C>A , CM000673.2:g.6394288C>A	GRCh38
NC_000011.9:g.6415518C>A , CM000673.1:g.6415518C>A	GRCh37
NC_000011.8:g.6372094C>A	NCBI36
NG_011780.1:g.8864C>A
NG_029615.1:g.30127G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1577C>A MANE Select	ENSP00000340409.4:p.Ala526Glu
ENST00000342245.8:c.1577C>A	ENSP00000340409.4:p.Ala526Glu
ENST00000526280.1:c.634C>A
ENST00000527275.5:c.1574C>A	ENSP00000435350.1:p.Ala525Glu
ENST00000531303.5:c.*428C>A	ENSP00000432625.1:n.*428C>A
ENST00000531336.1:n.565C>A
ENST00000533123.5:c.*304C>A	ENSP00000435950.1:n.*304C>A
ENST00000534405.5:c.*408C>A	ENSP00000434353.1:n.*408C>A
NM_000543.4:c.1577C>A	NP_000534.3:p.Ala526Glu
NM_001007593.2:c.1574C>A	NP_001007594.2:p.Ala525Glu
XM_005253075.3:c.*70C>A	XP_005253132.1:n.*70C>A
XM_011520303.1:c.1445C>A	XP_011518605.1:p.Ala482Glu
XM_011520304.1:c.*70C>A	XP_011518606.1:n.*70C>A
NM_001318087.1:c.*70C>A	NP_001305016.1:n.*70C>A
NM_001318088.1:c.656C>A	NP_001305017.1:p.Ala219Glu
NM_001365135.1:c.1445C>A	NP_001352064.1:p.Ala482Glu
NR_027400.2:n.1590C>A
NR_134502.1:n.1129C>A
XM_011520304.2:c.*70C>A	XP_011518606.1:n.*70C>A
XR_001747940.2:n.1762C>A
XR_002957158.1:n.1944C>A
NM_000543.5:c.1577C>A MANE Select	NP_000534.3:p.Ala526Glu
NM_001007593.3:c.1574C>A	NP_001007594.2:p.Ala525Glu
NM_001318087.2:c.*70C>A	NP_001305016.1:n.*70C>A
NM_001318088.2:c.656C>A	NP_001305017.1:p.Ala219Glu
NM_001365135.2:c.1445C>A	NP_001352064.1:p.Ala482Glu
NR_027400.3:n.1530C>A
NR_134502.2:n.1069C>A