Canonical Allele Identifier: CA658822275

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 558404
• ClinVar RCV Id: RCV003768012
• dbSNP Id: rs1554933746
• gnomAD v4: 11-6390653-CA-C
• MyVariant Identifiers: chr11:g.6390654del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390654del , CM000673.2:g.6390654del	GRCh38
NC_000011.9:g.6411884del , CM000673.1:g.6411884del	GRCh37
NC_000011.8:g.6368460del	NCBI36
NG_011780.1:g.5230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.56del MANE Select	ENSP00000340409.4:p.Gln19ArgfsTer?
ENST00000342245.8:c.56del	ENSP00000340409.4:p.Gln19ArgfsTer?
ENST00000527275.5:c.56del	ENSP00000435350.1:p.Gln19ArgfsTer?
ENST00000530395.1:c.-96+15del	ENSP00000431479.1:n.-96+15del
ENST00000531303.5:c.56del	ENSP00000432625.1:p.Gln19ArgfsTer?
ENST00000533123.5:c.56del	ENSP00000435950.1:p.Gln19ArgfsTer?
ENST00000533196.1:n.215del
ENST00000534405.5:c.56del	ENSP00000434353.1:p.Gln19ArgfsTer?
NM_000543.4:c.56del	NP_000534.3:p.Gln19ArgfsTer?
NM_001007593.2:c.56del	NP_001007594.2:p.Gln19ArgfsTer?
XM_005253075.3:c.56del	XP_005253132.1:p.Gln19ArgfsTer?
XM_011520303.1:c.56del	XP_011518605.1:p.Gln19ArgfsTer?
XM_011520304.1:c.56del	XP_011518606.1:p.Gln19ArgfsTer?
XR_930886.1:n.354del
NM_001318087.1:c.56del	NP_001305016.1:p.Gln19ArgfsTer?
NM_001318088.1:c.-906del	NP_001305017.1:n.-906del
NM_001365135.1:c.56del	NP_001352064.1:p.Gln19ArgfsTer?
NR_027400.2:n.241del
NR_134502.1:n.241del
XM_011520304.2:c.56del	XP_011518606.1:p.Gln19ArgfsTer?
XR_001747940.2:n.181del
XR_002957158.1:n.181del
NM_000543.5:c.56del MANE Select	NP_000534.3:p.Gln19ArgfsTer?
NM_001007593.3:c.56del	NP_001007594.2:p.Gln19ArgfsTer?
NM_001318087.2:c.56del	NP_001305016.1:p.Gln19ArgfsTer?
NM_001318088.2:c.-906del	NP_001305017.1:n.-906del
NM_001365135.2:c.56del	NP_001352064.1:p.Gln19ArgfsTer?
NR_027400.3:n.181del
NR_134502.2:n.181del