Canonical Allele Identifier: CA379377430

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394580-C-G
• MyVariant Identifiers: chr11:g.6415810C>G (hg19) ; chr11:g.6394580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394580C>G , CM000673.2:g.6394580C>G	GRCh38
NC_000011.9:g.6415810C>G , CM000673.1:g.6415810C>G	GRCh37
NC_000011.8:g.6372386C>G	NCBI36
NG_011780.1:g.9156C>G
NG_029615.1:g.29835G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1869C>G MANE Select	ENSP00000340409.4:p.Ser623Arg
ENST00000342245.8:c.1869C>G	ENSP00000340409.4:p.Ser623Arg
ENST00000526280.1:c.926C>G
ENST00000527275.5:c.1866C>G	ENSP00000435350.1:p.Ser622Arg
ENST00000531303.5:c.*720C>G	ENSP00000432625.1:n.*720C>G
ENST00000533123.5:c.*596C>G	ENSP00000435950.1:n.*596C>G
ENST00000534405.5:c.*700C>G	ENSP00000434353.1:n.*700C>G
NM_000543.4:c.1869C>G	NP_000534.3:p.Ser623Arg
NM_001007593.2:c.1866C>G	NP_001007594.2:p.Ser622Arg
XM_005253075.3:c.*362C>G	XP_005253132.1:n.*362C>G
XM_011520303.1:c.1737C>G	XP_011518605.1:p.Ser579Arg
NM_001318087.1:c.*362C>G	NP_001305016.1:n.*362C>G
NM_001318088.1:c.948C>G	NP_001305017.1:p.Ser316Arg
NM_001365135.1:c.1737C>G	NP_001352064.1:p.Ser579Arg
NR_027400.2:n.1882C>G
NR_134502.1:n.1421C>G
XR_001747940.2:n.2054C>G
XR_002957158.1:n.2236C>G
NM_000543.5:c.1869C>G MANE Select	NP_000534.3:p.Ser623Arg
NM_001007593.3:c.1866C>G	NP_001007594.2:p.Ser622Arg
NM_001318087.2:c.*362C>G	NP_001305016.1:n.*362C>G
NM_001318088.2:c.948C>G	NP_001305017.1:p.Ser316Arg
NM_001365135.2:c.1737C>G	NP_001352064.1:p.Ser579Arg
NR_027400.3:n.1822C>G
NR_134502.2:n.1361C>G