Canonical Allele Identifier: CA5852814

Gene: SMPD1

Linked Data

• dbSNP Id: rs200838486
• ExAC: 11:6414580 T / G
• gnomAD v2: 11-6414580-T-G
• gnomAD v3: 11-6393350-T-G
• gnomAD v4: 11-6393350-T-G
• COSMIC: COSM6240772
• MyVariant Identifiers: chr11:g.6414580T>G (hg19) ; chr11:g.6393350T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393350T>G , CM000673.2:g.6393350T>G	GRCh38
NC_000011.9:g.6414580T>G , CM000673.1:g.6414580T>G	GRCh37
NC_000011.8:g.6371156T>G	NCBI36
NG_011780.1:g.7926T>G
NG_029615.1:g.31065A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1226T>G MANE Select	ENSP00000340409.4:p.Val409Gly
ENST00000342245.8:c.1226T>G	ENSP00000340409.4:p.Val409Gly
ENST00000526280.1:c.321-267T>G
ENST00000527275.5:c.1223T>G	ENSP00000435350.1:p.Val408Gly
ENST00000531303.5:c.*57T>G	ENSP00000432625.1:n.*57T>G
ENST00000531336.1:n.58T>G
ENST00000533123.5:c.1092-267T>G	ENSP00000435950.1:n.1092-267T>G
ENST00000534405.5:c.*57T>G	ENSP00000434353.1:n.*57T>G
NM_000543.4:c.1226T>G	NP_000534.3:p.Val409Gly
NM_001007593.2:c.1223T>G	NP_001007594.2:p.Val408Gly
XM_005253075.3:c.1226T>G	XP_005253132.1:p.Val409Gly
XM_011520303.1:c.1132-267T>G	XP_011518605.1:n.1132-267T>G
XM_011520304.1:c.1132-267T>G	XP_011518606.1:n.1132-267T>G
XR_930886.1:n.1564T>G
NM_001318087.1:c.1226T>G	NP_001305016.1:p.Val409Gly
NM_001318088.1:c.305T>G	NP_001305017.1:p.Val102Gly
NM_001365135.1:c.1132-267T>G	NP_001352064.1:n.1132-267T>G
NR_027400.2:n.1277-267T>G
NR_134502.1:n.758T>G
XM_011520304.2:c.1132-267T>G	XP_011518606.1:n.1132-267T>G
XR_001747940.2:n.1391T>G
XR_002957158.1:n.1391T>G
NM_000543.5:c.1226T>G MANE Select	NP_000534.3:p.Val409Gly
NM_001007593.3:c.1223T>G	NP_001007594.2:p.Val408Gly
NM_001318087.2:c.1226T>G	NP_001305016.1:p.Val409Gly
NM_001318088.2:c.305T>G	NP_001305017.1:p.Val102Gly
NM_001365135.2:c.1132-267T>G	NP_001352064.1:n.1132-267T>G
NR_027400.3:n.1217-267T>G
NR_134502.2:n.698T>G