Canonical Allele Identifier: CA379368548

Gene: SMPD1

Linked Data

• dbSNP Id: rs1564922296
• gnomAD v4: 11-6390915-A-G
• MyVariant Identifiers: chr11:g.6412145A>G (hg19) ; chr11:g.6390915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390915A>G , CM000673.2:g.6390915A>G	GRCh38
NC_000011.9:g.6412145A>G , CM000673.1:g.6412145A>G	GRCh37
NC_000011.8:g.6368721A>G	NCBI36
NG_011780.1:g.5491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.317A>G MANE Select	ENSP00000340409.4:p.Lys106Arg
ENST00000342245.8:c.317A>G	ENSP00000340409.4:p.Lys106Arg
ENST00000527275.5:c.317A>G	ENSP00000435350.1:p.Lys106Arg
ENST00000530395.1:c.-96+276A>G	ENSP00000431479.1:n.-96+276A>G
ENST00000531303.5:c.317A>G	ENSP00000432625.1:p.Lys106Arg
ENST00000533123.5:c.317A>G	ENSP00000435950.1:p.Lys106Arg
ENST00000533196.1:n.374+102A>G
ENST00000534405.5:c.317A>G	ENSP00000434353.1:p.Lys106Arg
NM_000543.4:c.317A>G	NP_000534.3:p.Lys106Arg
NM_001007593.2:c.317A>G	NP_001007594.2:p.Lys106Arg
XM_005253075.3:c.317A>G	XP_005253132.1:p.Lys106Arg
XM_011520303.1:c.317A>G	XP_011518605.1:p.Lys106Arg
XM_011520304.1:c.317A>G	XP_011518606.1:p.Lys106Arg
XR_930886.1:n.615A>G
NM_001318087.1:c.317A>G	NP_001305016.1:p.Lys106Arg
NM_001318088.1:c.-645A>G	NP_001305017.1:n.-645A>G
NM_001365135.1:c.317A>G	NP_001352064.1:p.Lys106Arg
NR_027400.2:n.502A>G
NR_134502.1:n.502A>G
XM_011520304.2:c.317A>G	XP_011518606.1:p.Lys106Arg
XR_001747940.2:n.442A>G
XR_002957158.1:n.442A>G
NM_000543.5:c.317A>G MANE Select	NP_000534.3:p.Lys106Arg
NM_001007593.3:c.317A>G	NP_001007594.2:p.Lys106Arg
NM_001318087.2:c.317A>G	NP_001305016.1:p.Lys106Arg
NM_001318088.2:c.-645A>G	NP_001305017.1:n.-645A>G
NM_001365135.2:c.317A>G	NP_001352064.1:p.Lys106Arg
NR_027400.3:n.442A>G
NR_134502.2:n.442A>G