Canonical Allele Identifier: CA472909652

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1667505
• ClinVar RCV Id: RCV002189031
• dbSNP Id: rs2134011569
• gnomAD v4: 11-6391839-C-T
• MyVariant Identifiers: chr11:g.6413069C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391839C>T , CM000673.2:g.6391839C>T	GRCh38
NC_000011.9:g.6413069C>T , CM000673.1:g.6413069C>T	GRCh37
NC_000011.8:g.6369645C>T	NCBI36
NG_011780.1:g.6415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.774C>T MANE Select	ENSP00000340409.4:p.Thr258=
ENST00000342245.8:c.774C>T	ENSP00000340409.4:p.Thr258=
ENST00000527275.5:c.771C>T	ENSP00000435350.1:p.Thr257=
ENST00000530395.1:c.-46C>T	ENSP00000431479.1:n.-46C>T
ENST00000531303.5:c.438+336C>T	ENSP00000432625.1:n.438+336C>T
ENST00000533123.5:c.774C>T	ENSP00000435950.1:p.Thr258=
ENST00000533196.1:n.375-167C>T
ENST00000534405.5:c.774C>T	ENSP00000434353.1:p.Thr258=
NM_000543.4:c.774C>T	NP_000534.3:p.Thr258=
NM_001007593.2:c.771C>T	NP_001007594.2:p.Thr257=
XM_005253075.3:c.774C>T	XP_005253132.1:p.Thr258=
XM_011520303.1:c.774C>T	XP_011518605.1:p.Thr258=
XM_011520304.1:c.774C>T	XP_011518606.1:p.Thr258=
XR_930886.1:n.1072C>T
NM_001318087.1:c.774C>T	NP_001305016.1:p.Thr258=
NM_001318088.1:c.-188C>T	NP_001305017.1:n.-188C>T
NM_001365135.1:c.774C>T	NP_001352064.1:p.Thr258=
NR_027400.2:n.959C>T
NR_134502.1:n.623+336C>T
XM_011520304.2:c.774C>T	XP_011518606.1:p.Thr258=
XR_001747940.2:n.899C>T
XR_002957158.1:n.899C>T
NM_000543.5:c.774C>T MANE Select	NP_000534.3:p.Thr258=
NM_001007593.3:c.771C>T	NP_001007594.2:p.Thr257=
NM_001318087.2:c.774C>T	NP_001305016.1:p.Thr258=
NM_001318088.2:c.-188C>T	NP_001305017.1:n.-188C>T
NM_001365135.2:c.774C>T	NP_001352064.1:p.Thr258=
NR_027400.3:n.899C>T
NR_134502.2:n.563+336C>T