Canonical Allele Identifier: CA379374387

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393657-A-G
• MyVariant Identifiers: chr11:g.6414887A>G (hg19) ; chr11:g.6393657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393657A>G , CM000673.2:g.6393657A>G	GRCh38
NC_000011.9:g.6414887A>G , CM000673.1:g.6414887A>G	GRCh37
NC_000011.8:g.6371463A>G	NCBI36
NG_011780.1:g.8233A>G
NG_029615.1:g.30758T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1304A>G MANE Select	ENSP00000340409.4:p.Lys435Arg
ENST00000342245.8:c.1304A>G	ENSP00000340409.4:p.Lys435Arg
ENST00000526280.1:c.361A>G
ENST00000527275.5:c.1301A>G	ENSP00000435350.1:p.Lys434Arg
ENST00000531303.5:c.*135A>G	ENSP00000432625.1:n.*135A>G
ENST00000531336.1:n.136A>G
ENST00000532367.1:n.140A>G
ENST00000533123.5:c.*31A>G	ENSP00000435950.1:n.*31A>G
ENST00000534405.5:c.*135A>G	ENSP00000434353.1:n.*135A>G
NM_000543.4:c.1304A>G	NP_000534.3:p.Lys435Arg
NM_001007593.2:c.1301A>G	NP_001007594.2:p.Lys434Arg
XM_005253075.3:c.1304A>G	XP_005253132.1:p.Lys435Arg
XM_011520303.1:c.1172A>G	XP_011518605.1:p.Lys391Arg
XM_011520304.1:c.1172A>G	XP_011518606.1:p.Lys391Arg
XR_930886.1:n.1642A>G
NM_001318087.1:c.1304A>G	NP_001305016.1:p.Lys435Arg
NM_001318088.1:c.383A>G	NP_001305017.1:p.Lys128Arg
NM_001365135.1:c.1172A>G	NP_001352064.1:p.Lys391Arg
NR_027400.2:n.1317A>G
NR_134502.1:n.836A>G
XM_011520304.2:c.1172A>G	XP_011518606.1:p.Lys391Arg
XR_001747940.2:n.1469A>G
XR_002957158.1:n.1469A>G
NM_000543.5:c.1304A>G MANE Select	NP_000534.3:p.Lys435Arg
NM_001007593.3:c.1301A>G	NP_001007594.2:p.Lys434Arg
NM_001318087.2:c.1304A>G	NP_001305016.1:p.Lys435Arg
NM_001318088.2:c.383A>G	NP_001305017.1:p.Lys128Arg
NM_001365135.2:c.1172A>G	NP_001352064.1:p.Lys391Arg
NR_027400.3:n.1257A>G
NR_134502.2:n.776A>G