Canonical Allele Identifier: CA217303062

Gene: SMPD1

Linked Data

• dbSNP Id: rs1003856335
• gnomAD v2: 11-6415848-C-T
• gnomAD v4: 11-6394618-C-T
• MyVariant Identifiers: chr11:g.6415848C>T (hg19) ; chr11:g.6394618C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394618C>T , CM000673.2:g.6394618C>T	GRCh38
NC_000011.9:g.6415848C>T , CM000673.1:g.6415848C>T	GRCh37
NC_000011.8:g.6372424C>T	NCBI36
NG_011780.1:g.9194C>T
NG_029615.1:g.29797G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*11C>T MANE Select	ENSP00000340409.4:n.*11C>T
ENST00000342245.8:c.*11C>T	ENSP00000340409.4:n.*11C>T
ENST00000526280.1:c.964C>T
ENST00000527275.5:c.*11C>T	ENSP00000435350.1:n.*11C>T
ENST00000531303.5:c.*758C>T	ENSP00000432625.1:n.*758C>T
ENST00000533123.5:c.*634C>T	ENSP00000435950.1:n.*634C>T
ENST00000534405.5:c.*738C>T	ENSP00000434353.1:n.*738C>T
NM_000543.4:c.*11C>T	NP_000534.3:n.*11C>T
NM_001007593.2:c.*11C>T	NP_001007594.2:n.*11C>T
XM_011520303.1:c.*11C>T	XP_011518605.1:n.*11C>T
NM_001318087.1:c.*400C>T	NP_001305016.1:n.*400C>T
NM_001318088.1:c.*11C>T	NP_001305017.1:n.*11C>T
NM_001365135.1:c.*11C>T	NP_001352064.1:n.*11C>T
NR_027400.2:n.1920C>T
NR_134502.1:n.1459C>T
XR_001747940.2:n.2092C>T
XR_002957158.1:n.2274C>T
NM_000543.5:c.*11C>T MANE Select	NP_000534.3:n.*11C>T
NM_001007593.3:c.*11C>T	NP_001007594.2:n.*11C>T
NM_001318087.2:c.*400C>T	NP_001305016.1:n.*400C>T
NM_001318088.2:c.*11C>T	NP_001305017.1:n.*11C>T
NM_001365135.2:c.*11C>T	NP_001352064.1:n.*11C>T
NR_027400.3:n.1860C>T
NR_134502.2:n.1399C>T