Canonical Allele Identifier: CA5852913

Gene: SMPD1

Linked Data

• dbSNP Id: rs375302492
• ExAC: 11:6415385 A / G
• gnomAD v2: 11-6415385-A-G
• gnomAD v4: 11-6394155-A-G
• MyVariant Identifiers: chr11:g.6415385A>G (hg19) ; chr11:g.6394155A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394155A>G , CM000673.2:g.6394155A>G	GRCh38
NC_000011.9:g.6415385A>G , CM000673.1:g.6415385A>G	GRCh37
NC_000011.8:g.6371961A>G	NCBI36
NG_011780.1:g.8731A>G
NG_029615.1:g.30260T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-43A>G MANE Select	ENSP00000340409.4:n.1487-43A>G
ENST00000342245.8:c.1487-43A>G	ENSP00000340409.4:n.1487-43A>G
ENST00000526280.1:c.544-43A>G
ENST00000527275.5:c.1484-43A>G	ENSP00000435350.1:n.1484-43A>G
ENST00000531303.5:c.*318-23A>G	ENSP00000432625.1:n.*318-23A>G
ENST00000531336.1:n.432A>G
ENST00000533123.5:c.*214-43A>G	ENSP00000435950.1:n.*214-43A>G
ENST00000534405.5:c.*318-43A>G	ENSP00000434353.1:n.*318-43A>G
NM_000543.4:c.1487-43A>G	NP_000534.3:n.1487-43A>G
NM_001007593.2:c.1484-43A>G	NP_001007594.2:n.1484-43A>G
XM_005253075.3:c.1487-23A>G	XP_005253132.1:n.1487-23A>G
XM_011520303.1:c.1355-43A>G	XP_011518605.1:n.1355-43A>G
XM_011520304.1:c.1355-23A>G	XP_011518606.1:n.1355-23A>G
NM_001318087.1:c.1487-23A>G	NP_001305016.1:n.1487-23A>G
NM_001318088.1:c.566-43A>G	NP_001305017.1:n.566-43A>G
NM_001365135.1:c.1355-43A>G	NP_001352064.1:n.1355-43A>G
NR_027400.2:n.1500-43A>G
NR_134502.1:n.1019-23A>G
XM_011520304.2:c.1355-23A>G	XP_011518606.1:n.1355-23A>G
XR_001747940.2:n.1652-23A>G
XR_002957158.1:n.1854-43A>G
NM_000543.5:c.1487-43A>G MANE Select	NP_000534.3:n.1487-43A>G
NM_001007593.3:c.1484-43A>G	NP_001007594.2:n.1484-43A>G
NM_001318087.2:c.1487-23A>G	NP_001305016.1:n.1487-23A>G
NM_001318088.2:c.566-43A>G	NP_001305017.1:n.566-43A>G
NM_001365135.2:c.1355-43A>G	NP_001352064.1:n.1355-43A>G
NR_027400.3:n.1440-43A>G
NR_134502.2:n.959-23A>G