Canonical Allele Identifier: CA217302507

Gene: SMPD1

Linked Data

• dbSNP Id: rs1026750774
• gnomAD v4: 11-6394156-C-T
• MyVariant Identifiers: chr11:g.6415386C>T (hg19) ; chr11:g.6394156C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394156C>T , CM000673.2:g.6394156C>T	GRCh38
NC_000011.9:g.6415386C>T , CM000673.1:g.6415386C>T	GRCh37
NC_000011.8:g.6371962C>T	NCBI36
NG_011780.1:g.8732C>T
NG_029615.1:g.30259G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-42C>T MANE Select	ENSP00000340409.4:n.1487-42C>T
ENST00000342245.8:c.1487-42C>T	ENSP00000340409.4:n.1487-42C>T
ENST00000526280.1:c.544-42C>T
ENST00000527275.5:c.1484-42C>T	ENSP00000435350.1:n.1484-42C>T
ENST00000531303.5:c.*318-22C>T	ENSP00000432625.1:n.*318-22C>T
ENST00000531336.1:n.433C>T
ENST00000533123.5:c.*214-42C>T	ENSP00000435950.1:n.*214-42C>T
ENST00000534405.5:c.*318-42C>T	ENSP00000434353.1:n.*318-42C>T
NM_000543.4:c.1487-42C>T	NP_000534.3:n.1487-42C>T
NM_001007593.2:c.1484-42C>T	NP_001007594.2:n.1484-42C>T
XM_005253075.3:c.1487-22C>T	XP_005253132.1:n.1487-22C>T
XM_011520303.1:c.1355-42C>T	XP_011518605.1:n.1355-42C>T
XM_011520304.1:c.1355-22C>T	XP_011518606.1:n.1355-22C>T
NM_001318087.1:c.1487-22C>T	NP_001305016.1:n.1487-22C>T
NM_001318088.1:c.566-42C>T	NP_001305017.1:n.566-42C>T
NM_001365135.1:c.1355-42C>T	NP_001352064.1:n.1355-42C>T
NR_027400.2:n.1500-42C>T
NR_134502.1:n.1019-22C>T
XM_011520304.2:c.1355-22C>T	XP_011518606.1:n.1355-22C>T
XR_001747940.2:n.1652-22C>T
XR_002957158.1:n.1854-42C>T
NM_000543.5:c.1487-42C>T MANE Select	NP_000534.3:n.1487-42C>T
NM_001007593.3:c.1484-42C>T	NP_001007594.2:n.1484-42C>T
NM_001318087.2:c.1487-22C>T	NP_001305016.1:n.1487-22C>T
NM_001318088.2:c.566-42C>T	NP_001305017.1:n.566-42C>T
NM_001365135.2:c.1355-42C>T	NP_001352064.1:n.1355-42C>T
NR_027400.3:n.1440-42C>T
NR_134502.2:n.959-22C>T