Canonical Allele Identifier: CA5852553

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1099750
• ClinVar RCV Id: RCV001422150 ; RCV003938729
• dbSNP Id: rs367666720
• ExAC: 11:6412156 G / C
• gnomAD v2: 11-6412156-G-C
• gnomAD v3: 11-6390926-G-C
• gnomAD v4: 11-6390926-G-C
• MyVariant Identifiers: chr11:g.6412156G>C (hg19) ; chr11:g.6390926G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390926G>C , CM000673.2:g.6390926G>C	GRCh38
NC_000011.9:g.6412156G>C , CM000673.1:g.6412156G>C	GRCh37
NC_000011.8:g.6368732G>C	NCBI36
NG_011780.1:g.5502G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+10G>C MANE Select	ENSP00000340409.4:n.318+10G>C
ENST00000342245.8:c.318+10G>C	ENSP00000340409.4:n.318+10G>C
ENST00000527275.5:c.318+10G>C	ENSP00000435350.1:n.318+10G>C
ENST00000530395.1:c.-96+287G>C	ENSP00000431479.1:n.-96+287G>C
ENST00000531303.5:c.318+10G>C	ENSP00000432625.1:n.318+10G>C
ENST00000533123.5:c.318+10G>C	ENSP00000435950.1:n.318+10G>C
ENST00000533196.1:n.374+113G>C
ENST00000534405.5:c.318+10G>C	ENSP00000434353.1:n.318+10G>C
NM_000543.4:c.318+10G>C	NP_000534.3:n.318+10G>C
NM_001007593.2:c.318+10G>C	NP_001007594.2:n.318+10G>C
XM_005253075.3:c.318+10G>C	XP_005253132.1:n.318+10G>C
XM_011520303.1:c.318+10G>C	XP_011518605.1:n.318+10G>C
XM_011520304.1:c.318+10G>C	XP_011518606.1:n.318+10G>C
XR_930886.1:n.616+10G>C
NM_001318087.1:c.318+10G>C	NP_001305016.1:n.318+10G>C
NM_001318088.1:c.-644+10G>C	NP_001305017.1:n.-644+10G>C
NM_001365135.1:c.318+10G>C	NP_001352064.1:n.318+10G>C
NR_027400.2:n.503+10G>C
NR_134502.1:n.503+10G>C
XM_011520304.2:c.318+10G>C	XP_011518606.1:n.318+10G>C
XR_001747940.2:n.443+10G>C
XR_002957158.1:n.443+10G>C
NM_000543.5:c.318+10G>C MANE Select	NP_000534.3:n.318+10G>C
NM_001007593.3:c.318+10G>C	NP_001007594.2:n.318+10G>C
NM_001318087.2:c.318+10G>C	NP_001305016.1:n.318+10G>C
NM_001318088.2:c.-644+10G>C	NP_001305017.1:n.-644+10G>C
NM_001365135.2:c.318+10G>C	NP_001352064.1:n.318+10G>C
NR_027400.3:n.443+10G>C
NR_134502.2:n.443+10G>C