Canonical Allele Identifier: CA5852552

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 991123
• ClinVar RCV Id: RCV001279281 ; RCV001397388
• dbSNP Id: rs747913628
• ExAC: 11:6412153 A / G
• gnomAD v2: 11-6412153-A-G
• MyVariant Identifiers: chr11:g.6412153A>G (hg19) ; chr11:g.6390923A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390923A>G , CM000673.2:g.6390923A>G	GRCh38
NC_000011.9:g.6412153A>G , CM000673.1:g.6412153A>G	GRCh37
NC_000011.8:g.6368729A>G	NCBI36
NG_011780.1:g.5499A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.318+7A>G MANE Select	ENSP00000340409.4:n.318+7A>G
ENST00000342245.8:c.318+7A>G	ENSP00000340409.4:n.318+7A>G
ENST00000527275.5:c.318+7A>G	ENSP00000435350.1:n.318+7A>G
ENST00000530395.1:c.-96+284A>G	ENSP00000431479.1:n.-96+284A>G
ENST00000531303.5:c.318+7A>G	ENSP00000432625.1:n.318+7A>G
ENST00000533123.5:c.318+7A>G	ENSP00000435950.1:n.318+7A>G
ENST00000533196.1:n.374+110A>G
ENST00000534405.5:c.318+7A>G	ENSP00000434353.1:n.318+7A>G
NM_000543.4:c.318+7A>G	NP_000534.3:n.318+7A>G
NM_001007593.2:c.318+7A>G	NP_001007594.2:n.318+7A>G
XM_005253075.3:c.318+7A>G	XP_005253132.1:n.318+7A>G
XM_011520303.1:c.318+7A>G	XP_011518605.1:n.318+7A>G
XM_011520304.1:c.318+7A>G	XP_011518606.1:n.318+7A>G
XR_930886.1:n.616+7A>G
NM_001318087.1:c.318+7A>G	NP_001305016.1:n.318+7A>G
NM_001318088.1:c.-644+7A>G	NP_001305017.1:n.-644+7A>G
NM_001365135.1:c.318+7A>G	NP_001352064.1:n.318+7A>G
NR_027400.2:n.503+7A>G
NR_134502.1:n.503+7A>G
XM_011520304.2:c.318+7A>G	XP_011518606.1:n.318+7A>G
XR_001747940.2:n.443+7A>G
XR_002957158.1:n.443+7A>G
NM_000543.5:c.318+7A>G MANE Select	NP_000534.3:n.318+7A>G
NM_001007593.3:c.318+7A>G	NP_001007594.2:n.318+7A>G
NM_001318087.2:c.318+7A>G	NP_001305016.1:n.318+7A>G
NM_001318088.2:c.-644+7A>G	NP_001305017.1:n.-644+7A>G
NM_001365135.2:c.318+7A>G	NP_001352064.1:n.318+7A>G
NR_027400.3:n.443+7A>G
NR_134502.2:n.443+7A>G