Canonical Allele Identifier: CA379372685

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 3166640
• ClinVar RCV Id: RCV004462024
• dbSNP Id: rs1387046059
• gnomAD v2: 11-6414448-T-C
• gnomAD v4: 11-6393218-T-C
• MyVariant Identifiers: chr11:g.6414448T>C (hg19) ; chr11:g.6393218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393218T>C , CM000673.2:g.6393218T>C	GRCh38
NC_000011.9:g.6414448T>C , CM000673.1:g.6414448T>C	GRCh37
NC_000011.8:g.6371024T>C	NCBI36
NG_011780.1:g.7794T>C
NG_029615.1:g.31197A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1094T>C MANE Select	ENSP00000340409.4:p.Ile365Thr
ENST00000342245.8:c.1094T>C	ENSP00000340409.4:p.Ile365Thr
ENST00000526280.1:c.321-399T>C
ENST00000527275.5:c.1091T>C	ENSP00000435350.1:p.Ile364Thr
ENST00000531303.5:c.441T>C	ENSP00000432625.1:p.Asn147=
ENST00000533123.5:c.1092-399T>C	ENSP00000435950.1:n.1092-399T>C
ENST00000534405.5:c.1134T>C	ENSP00000434353.1:p.Asn378=
NM_000543.4:c.1094T>C	NP_000534.3:p.Ile365Thr
NM_001007593.2:c.1091T>C	NP_001007594.2:p.Ile364Thr
XM_005253075.3:c.1094T>C	XP_005253132.1:p.Ile365Thr
XM_011520303.1:c.1132-399T>C	XP_011518605.1:n.1132-399T>C
XM_011520304.1:c.1132-399T>C	XP_011518606.1:n.1132-399T>C
XR_930886.1:n.1432T>C
NM_001318087.1:c.1094T>C	NP_001305016.1:p.Ile365Thr
NM_001318088.1:c.173T>C	NP_001305017.1:p.Ile58Thr
NM_001365135.1:c.1132-399T>C	NP_001352064.1:n.1132-399T>C
NR_027400.2:n.1277-399T>C
NR_134502.1:n.626T>C
XM_011520304.2:c.1132-399T>C	XP_011518606.1:n.1132-399T>C
XR_001747940.2:n.1259T>C
XR_002957158.1:n.1259T>C
NM_000543.5:c.1094T>C MANE Select	NP_000534.3:p.Ile365Thr
NM_001007593.3:c.1091T>C	NP_001007594.2:p.Ile364Thr
NM_001318087.2:c.1094T>C	NP_001305016.1:p.Ile365Thr
NM_001318088.2:c.173T>C	NP_001305017.1:p.Ile58Thr
NM_001365135.2:c.1132-399T>C	NP_001352064.1:n.1132-399T>C
NR_027400.3:n.1217-399T>C
NR_134502.2:n.566T>C