Canonical Allele Identifier: CA217299749

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1116265
• ClinVar RCV Id: RCV001444599
• dbSNP Id: rs1040248510
• gnomAD v2: 11-6413312-C-T
• gnomAD v3: 11-6392082-C-T
• gnomAD v4: 11-6392082-C-T
• MyVariant Identifiers: chr11:g.6413312C>T (hg19) ; chr11:g.6392082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392082C>T , CM000673.2:g.6392082C>T	GRCh38
NC_000011.9:g.6413312C>T , CM000673.1:g.6413312C>T	GRCh37
NC_000011.8:g.6369888C>T	NCBI36
NG_011780.1:g.6658C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1017C>T MANE Select	ENSP00000340409.4:p.Ser339=
ENST00000342245.8:c.1017C>T	ENSP00000340409.4:p.Ser339=
ENST00000526280.1:c.206C>T
ENST00000527275.5:c.1014C>T	ENSP00000435350.1:p.Ser338=
ENST00000531303.5:c.438+579C>T	ENSP00000432625.1:n.438+579C>T
ENST00000533123.5:c.1017C>T	ENSP00000435950.1:p.Ser339=
ENST00000534405.5:c.1017C>T	ENSP00000434353.1:p.Ser339=
NM_000543.4:c.1017C>T	NP_000534.3:p.Ser339=
NM_001007593.2:c.1014C>T	NP_001007594.2:p.Ser338=
XM_005253075.3:c.1017C>T	XP_005253132.1:p.Ser339=
XM_011520303.1:c.1017C>T	XP_011518605.1:p.Ser339=
XM_011520304.1:c.1017C>T	XP_011518606.1:p.Ser339=
XR_930886.1:n.1315C>T
NM_001318087.1:c.1017C>T	NP_001305016.1:p.Ser339=
NM_001318088.1:c.56C>T	NP_001305017.1:p.Pro19Leu
NM_001365135.1:c.1017C>T	NP_001352064.1:p.Ser339=
NR_027400.2:n.1202C>T
NR_134502.1:n.623+579C>T
XM_011520304.2:c.1017C>T	XP_011518606.1:p.Ser339=
XR_001747940.2:n.1142C>T
XR_002957158.1:n.1142C>T
NM_000543.5:c.1017C>T MANE Select	NP_000534.3:p.Ser339=
NM_001007593.3:c.1014C>T	NP_001007594.2:p.Ser338=
NM_001318087.2:c.1017C>T	NP_001305016.1:p.Ser339=
NM_001318088.2:c.56C>T	NP_001305017.1:p.Pro19Leu
NM_001365135.2:c.1017C>T	NP_001352064.1:p.Ser339=
NR_027400.3:n.1142C>T
NR_134502.2:n.563+579C>T