Canonical Allele Identifier: CA5852506

Gene: SMPD1

Linked Data

• dbSNP Id: rs753484058
• ExAC: 11:6411975 G / GGC
• gnomAD v2: 11-6411975-G-GGC
• gnomAD v4: 11-6390745-G-GGC
• MyVariant Identifiers: chr11:g.6411975_6411976insGC (hg19) ; chr11:g.6411976delinsGCT (hg19) ; chr11:g.6390745_6390746insGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390745_6390746insGC , CM000673.2:g.6390745_6390746insGC	GRCh38
NC_000011.9:g.6411975_6411976insGC , CM000673.1:g.6411975_6411976insGC	GRCh37
NC_000011.8:g.6368551_6368552insGC	NCBI36
NG_011780.1:g.5321_5322insGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.147_148insGC MANE Select	ENSP00000340409.4:p.Ser50AlafsTer28
ENST00000342245.8:c.147_148insGC	ENSP00000340409.4:p.Ser50AlafsTer28
ENST00000527275.5:c.147_148insGC	ENSP00000435350.1:p.Ser50AlafsTer28
ENST00000530395.1:c.-96+106_-96+107insGC	ENSP00000431479.1:n.-96+106_-96+107insGC
ENST00000531303.5:c.147_148insGC	ENSP00000432625.1:p.Ser50AlafsTer28
ENST00000533123.5:c.147_148insGC	ENSP00000435950.1:p.Ser50AlafsTer28
ENST00000533196.1:n.306_307insGC
ENST00000534405.5:c.147_148insGC	ENSP00000434353.1:p.Ser50AlafsTer28
NM_000543.4:c.147_148insGC	NP_000534.3:p.Ser50AlafsTer28
NM_001007593.2:c.147_148insGC	NP_001007594.2:p.Ser50AlafsTer28
XM_005253075.3:c.147_148insGC	XP_005253132.1:p.Ser50AlafsTer28
XM_011520303.1:c.147_148insGC	XP_011518605.1:p.Ser50AlafsTer28
XM_011520304.1:c.147_148insGC	XP_011518606.1:p.Ser50AlafsTer28
XR_930886.1:n.445_446insGC
NM_001318087.1:c.147_148insGC	NP_001305016.1:p.Ser50AlafsTer28
NM_001318088.1:c.-815_-814insGC	NP_001305017.1:n.-815_-814insGC
NM_001365135.1:c.147_148insGC	NP_001352064.1:p.Ser50AlafsTer28
NR_027400.2:n.332_333insGC
NR_134502.1:n.332_333insGC
XM_011520304.2:c.147_148insGC	XP_011518606.1:p.Ser50AlafsTer28
XR_001747940.2:n.272_273insGC
XR_002957158.1:n.272_273insGC
NM_000543.5:c.147_148insGC MANE Select	NP_000534.3:p.Ser50AlafsTer28
NM_001007593.3:c.147_148insGC	NP_001007594.2:p.Ser50AlafsTer28
NM_001318087.2:c.147_148insGC	NP_001305016.1:p.Ser50AlafsTer28
NM_001318088.2:c.-815_-814insGC	NP_001305017.1:n.-815_-814insGC
NM_001365135.2:c.147_148insGC	NP_001352064.1:p.Ser50AlafsTer28
NR_027400.3:n.272_273insGC
NR_134502.2:n.272_273insGC