Canonical Allele Identifier: CA379376355

Gene: SMPD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1577C>T MANE Select	ENSP00000340409.4:p.Ala526Val
ENST00000342245.8:c.1577C>T	ENSP00000340409.4:p.Ala526Val
ENST00000526280.1:c.634C>T
ENST00000527275.5:c.1574C>T	ENSP00000435350.1:p.Ala525Val
ENST00000531303.5:c.*428C>T	ENSP00000432625.1:n.*428C>T
ENST00000531336.1:n.565C>T
ENST00000533123.5:c.*304C>T	ENSP00000435950.1:n.*304C>T
ENST00000534405.5:c.*408C>T	ENSP00000434353.1:n.*408C>T
NM_000543.4:c.1577C>T	NP_000534.3:p.Ala526Val
NM_001007593.2:c.1574C>T	NP_001007594.2:p.Ala525Val
XM_005253075.3:c.*70C>T	XP_005253132.1:n.*70C>T
XM_011520303.1:c.1445C>T	XP_011518605.1:p.Ala482Val
XM_011520304.1:c.*70C>T	XP_011518606.1:n.*70C>T
NM_001318087.1:c.*70C>T	NP_001305016.1:n.*70C>T
NM_001318088.1:c.656C>T	NP_001305017.1:p.Ala219Val
NM_001365135.1:c.1445C>T	NP_001352064.1:p.Ala482Val
NR_027400.2:n.1590C>T
NR_134502.1:n.1129C>T
XM_011520304.2:c.*70C>T	XP_011518606.1:n.*70C>T
XR_001747940.2:n.1762C>T
XR_002957158.1:n.1944C>T
NM_000543.5:c.1577C>T MANE Select	NP_000534.3:p.Ala526Val
NM_001007593.3:c.1574C>T	NP_001007594.2:p.Ala525Val
NM_001318087.2:c.*70C>T	NP_001305016.1:n.*70C>T
NM_001318088.2:c.656C>T	NP_001305017.1:p.Ala219Val
NM_001365135.2:c.1445C>T	NP_001352064.1:p.Ala482Val
NR_027400.3:n.1530C>T
NR_134502.2:n.1069C>T