Canonical Allele Identifier: CA472736777

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393376-C-A
• MyVariant Identifiers: chr11:g.6414606C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393376C>A , CM000673.2:g.6393376C>A	GRCh38
NC_000011.9:g.6414606C>A , CM000673.1:g.6414606C>A	GRCh37
NC_000011.8:g.6371182C>A	NCBI36
NG_011780.1:g.7952C>A
NG_029615.1:g.31039G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1252C>A MANE Select	ENSP00000340409.4:p.Arg418=
ENST00000342245.8:c.1252C>A	ENSP00000340409.4:p.Arg418=
ENST00000526280.1:c.321-241C>A
ENST00000527275.5:c.1249C>A	ENSP00000435350.1:p.Arg417=
ENST00000531303.5:c.*83C>A	ENSP00000432625.1:n.*83C>A
ENST00000531336.1:n.84C>A
ENST00000533123.5:c.1092-241C>A	ENSP00000435950.1:n.1092-241C>A
ENST00000534405.5:c.*83C>A	ENSP00000434353.1:n.*83C>A
NM_000543.4:c.1252C>A	NP_000534.3:p.Arg418=
NM_001007593.2:c.1249C>A	NP_001007594.2:p.Arg417=
XM_005253075.3:c.1252C>A	XP_005253132.1:p.Arg418=
XM_011520303.1:c.1132-241C>A	XP_011518605.1:n.1132-241C>A
XM_011520304.1:c.1132-241C>A	XP_011518606.1:n.1132-241C>A
XR_930886.1:n.1590C>A
NM_001318087.1:c.1252C>A	NP_001305016.1:p.Arg418=
NM_001318088.1:c.331C>A	NP_001305017.1:p.Arg111=
NM_001365135.1:c.1132-241C>A	NP_001352064.1:n.1132-241C>A
NR_027400.2:n.1277-241C>A
NR_134502.1:n.784C>A
XM_011520304.2:c.1132-241C>A	XP_011518606.1:n.1132-241C>A
XR_001747940.2:n.1417C>A
XR_002957158.1:n.1417C>A
NM_000543.5:c.1252C>A MANE Select	NP_000534.3:p.Arg418=
NM_001007593.3:c.1249C>A	NP_001007594.2:p.Arg417=
NM_001318087.2:c.1252C>A	NP_001305016.1:p.Arg418=
NM_001318088.2:c.331C>A	NP_001305017.1:p.Arg111=
NM_001365135.2:c.1132-241C>A	NP_001352064.1:n.1132-241C>A
NR_027400.3:n.1217-241C>A
NR_134502.2:n.724C>A