Canonical Allele Identifier: CA379375529

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394021-C-T
• MyVariant Identifiers: chr11:g.6415251C>T (hg19) ; chr11:g.6394021C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394021C>T , CM000673.2:g.6394021C>T	GRCh38
NC_000011.9:g.6415251C>T , CM000673.1:g.6415251C>T	GRCh37
NC_000011.8:g.6371827C>T	NCBI36
NG_011780.1:g.8597C>T
NG_029615.1:g.30394G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1466C>T MANE Select	ENSP00000340409.4:p.Thr489Ile
ENST00000342245.8:c.1466C>T	ENSP00000340409.4:p.Thr489Ile
ENST00000526280.1:c.523C>T
ENST00000527275.5:c.1463C>T	ENSP00000435350.1:p.Thr488Ile
ENST00000531303.5:c.*297C>T	ENSP00000432625.1:n.*297C>T
ENST00000531336.1:n.298C>T
ENST00000532367.1:n.302C>T
ENST00000533123.5:c.*193C>T	ENSP00000435950.1:n.*193C>T
ENST00000534405.5:c.*297C>T	ENSP00000434353.1:n.*297C>T
NM_000543.4:c.1466C>T	NP_000534.3:p.Thr489Ile
NM_001007593.2:c.1463C>T	NP_001007594.2:p.Thr488Ile
XM_005253075.3:c.1466C>T	XP_005253132.1:p.Thr489Ile
XM_011520303.1:c.1334C>T	XP_011518605.1:p.Thr445Ile
XM_011520304.1:c.1334C>T	XP_011518606.1:p.Thr445Ile
XR_930886.1:n.1804C>T
NM_001318087.1:c.1466C>T	NP_001305016.1:p.Thr489Ile
NM_001318088.1:c.545C>T	NP_001305017.1:p.Thr182Ile
NM_001365135.1:c.1334C>T	NP_001352064.1:p.Thr445Ile
NR_027400.2:n.1479C>T
NR_134502.1:n.998C>T
XM_011520304.2:c.1334C>T	XP_011518606.1:p.Thr445Ile
XR_001747940.2:n.1631C>T
XR_002957158.1:n.1833C>T
NM_000543.5:c.1466C>T MANE Select	NP_000534.3:p.Thr489Ile
NM_001007593.3:c.1463C>T	NP_001007594.2:p.Thr488Ile
NM_001318087.2:c.1466C>T	NP_001305016.1:p.Thr489Ile
NM_001318088.2:c.545C>T	NP_001305017.1:p.Thr182Ile
NM_001365135.2:c.1334C>T	NP_001352064.1:p.Thr445Ile
NR_027400.3:n.1419C>T
NR_134502.2:n.938C>T