Canonical Allele Identifier: CA472736636

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2950850
• ClinVar RCV Id: RCV003802112
• MyVariant Identifiers: chr11:g.6414452G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393222G>A , CM000673.2:g.6393222G>A	GRCh38
NC_000011.9:g.6414452G>A , CM000673.1:g.6414452G>A	GRCh37
NC_000011.8:g.6371028G>A	NCBI36
NG_011780.1:g.7798G>A
NG_029615.1:g.31193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1098G>A MANE Select	ENSP00000340409.4:p.Gly366=
ENST00000342245.8:c.1098G>A	ENSP00000340409.4:p.Gly366=
ENST00000526280.1:c.321-395G>A
ENST00000527275.5:c.1095G>A	ENSP00000435350.1:p.Gly365=
ENST00000531303.5:c.445G>A	ENSP00000432625.1:p.Gly149Arg
ENST00000533123.5:c.1092-395G>A	ENSP00000435950.1:n.1092-395G>A
ENST00000534405.5:c.1138G>A	ENSP00000434353.1:p.Gly380Arg
NM_000543.4:c.1098G>A	NP_000534.3:p.Gly366=
NM_001007593.2:c.1095G>A	NP_001007594.2:p.Gly365=
XM_005253075.3:c.1098G>A	XP_005253132.1:p.Gly366=
XM_011520303.1:c.1132-395G>A	XP_011518605.1:n.1132-395G>A
XM_011520304.1:c.1132-395G>A	XP_011518606.1:n.1132-395G>A
XR_930886.1:n.1436G>A
NM_001318087.1:c.1098G>A	NP_001305016.1:p.Gly366=
NM_001318088.1:c.177G>A	NP_001305017.1:p.Gly59=
NM_001365135.1:c.1132-395G>A	NP_001352064.1:n.1132-395G>A
NR_027400.2:n.1277-395G>A
NR_134502.1:n.630G>A
XM_011520304.2:c.1132-395G>A	XP_011518606.1:n.1132-395G>A
XR_001747940.2:n.1263G>A
XR_002957158.1:n.1263G>A
NM_000543.5:c.1098G>A MANE Select	NP_000534.3:p.Gly366=
NM_001007593.3:c.1095G>A	NP_001007594.2:p.Gly365=
NM_001318087.2:c.1098G>A	NP_001305016.1:p.Gly366=
NM_001318088.2:c.177G>A	NP_001305017.1:p.Gly59=
NM_001365135.2:c.1132-395G>A	NP_001352064.1:n.1132-395G>A
NR_027400.3:n.1217-395G>A
NR_134502.2:n.570G>A