Canonical Allele Identifier: CA5853004

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1671533
• ClinVar RCV Id: RCV002199016
• dbSNP Id: rs776370511
• ExAC: 11:6415826 C / T
• gnomAD v2: 11-6415826-C-T
• gnomAD v4: 11-6394596-C-T
• MyVariant Identifiers: chr11:g.6415826C>T (hg19) ; chr11:g.6394596C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394596C>T , CM000673.2:g.6394596C>T	GRCh38
NC_000011.9:g.6415826C>T , CM000673.1:g.6415826C>T	GRCh37
NC_000011.8:g.6372402C>T	NCBI36
NG_011780.1:g.9172C>T
NG_029615.1:g.29819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1885C>T MANE Select	ENSP00000340409.4:p.Leu629=
ENST00000342245.8:c.1885C>T	ENSP00000340409.4:p.Leu629=
ENST00000526280.1:c.942C>T
ENST00000527275.5:c.1882C>T	ENSP00000435350.1:p.Leu628=
ENST00000531303.5:c.*736C>T	ENSP00000432625.1:n.*736C>T
ENST00000533123.5:c.*612C>T	ENSP00000435950.1:n.*612C>T
ENST00000534405.5:c.*716C>T	ENSP00000434353.1:n.*716C>T
NM_000543.4:c.1885C>T	NP_000534.3:p.Leu629=
NM_001007593.2:c.1882C>T	NP_001007594.2:p.Leu628=
XM_005253075.3:c.*378C>T	XP_005253132.1:n.*378C>T
XM_011520303.1:c.1753C>T	XP_011518605.1:p.Leu585=
NM_001318087.1:c.*378C>T	NP_001305016.1:n.*378C>T
NM_001318088.1:c.964C>T	NP_001305017.1:p.Leu322=
NM_001365135.1:c.1753C>T	NP_001352064.1:p.Leu585=
NR_027400.2:n.1898C>T
NR_134502.1:n.1437C>T
XR_001747940.2:n.2070C>T
XR_002957158.1:n.2252C>T
NM_000543.5:c.1885C>T MANE Select	NP_000534.3:p.Leu629=
NM_001007593.3:c.1882C>T	NP_001007594.2:p.Leu628=
NM_001318087.2:c.*378C>T	NP_001305016.1:n.*378C>T
NM_001318088.2:c.964C>T	NP_001305017.1:p.Leu322=
NM_001365135.2:c.1753C>T	NP_001352064.1:p.Leu585=
NR_027400.3:n.1838C>T
NR_134502.2:n.1377C>T