Canonical Allele Identifier: CA221143

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 93312
• ClinVar RCV Id: RCV000177083 ; RCV000410331 ; RCV001273166 ; RCV001380609
• dbSNP Id: rs398123474
• gnomAD v4: 11-6393215-G-C
• MyVariant Identifiers: chr11:g.6414445G>C (hg19) ; chr11:g.6393215G>C (hg38)
• PubMed: PMID:1840600 ; PMID:8499909 ; PMID:17011332 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393215G>C , CM000673.2:g.6393215G>C	GRCh38
NC_000011.9:g.6414445G>C , CM000673.1:g.6414445G>C	GRCh37
NC_000011.8:g.6371021G>C	NCBI36
NG_011780.1:g.7791G>C
NG_029615.1:g.31200C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1092-1G>C MANE Select	ENSP00000340409.4:n.1092-1G>C
ENST00000342245.8:c.1092-1G>C	ENSP00000340409.4:n.1092-1G>C
ENST00000526280.1:c.321-402G>C
ENST00000527275.5:c.1089-1G>C	ENSP00000435350.1:n.1089-1G>C
ENST00000531303.5:c.439-1G>C	ENSP00000432625.1:n.439-1G>C
ENST00000533123.5:c.1092-402G>C	ENSP00000435950.1:n.1092-402G>C
ENST00000534405.5:c.1132-1G>C	ENSP00000434353.1:n.1132-1G>C
NM_000543.4:c.1092-1G>C	NP_000534.3:n.1092-1G>C
NM_001007593.2:c.1089-1G>C	NP_001007594.2:n.1089-1G>C
XM_005253075.3:c.1092-1G>C	XP_005253132.1:n.1092-1G>C
XM_011520303.1:c.1132-402G>C	XP_011518605.1:n.1132-402G>C
XM_011520304.1:c.1132-402G>C	XP_011518606.1:n.1132-402G>C
XR_930886.1:n.1430-1G>C
NM_001318087.1:c.1092-1G>C	NP_001305016.1:n.1092-1G>C
NM_001318088.1:c.171-1G>C	NP_001305017.1:n.171-1G>C
NM_001365135.1:c.1132-402G>C	NP_001352064.1:n.1132-402G>C
NR_027400.2:n.1277-402G>C
NR_134502.1:n.624-1G>C
XM_011520304.2:c.1132-402G>C	XP_011518606.1:n.1132-402G>C
XR_001747940.2:n.1257-1G>C
XR_002957158.1:n.1257-1G>C
NM_000543.5:c.1092-1G>C MANE Select	NP_000534.3:n.1092-1G>C
NM_001007593.3:c.1089-1G>C	NP_001007594.2:n.1089-1G>C
NM_001318087.2:c.1092-1G>C	NP_001305016.1:n.1092-1G>C
NM_001318088.2:c.171-1G>C	NP_001305017.1:n.171-1G>C
NM_001365135.2:c.1132-402G>C	NP_001352064.1:n.1132-402G>C
NR_027400.3:n.1217-402G>C
NR_134502.2:n.564-1G>C