Canonical Allele Identifier: CA379373281

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2942939
• ClinVar RCV Id: RCV003808105
• MyVariant Identifiers: chr11:g.6414533G>A (hg19) ; chr11:g.6393303G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393303G>A , CM000673.2:g.6393303G>A	GRCh38
NC_000011.9:g.6414533G>A , CM000673.1:g.6414533G>A	GRCh37
NC_000011.8:g.6371109G>A	NCBI36
NG_011780.1:g.7879G>A
NG_029615.1:g.31112C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1179G>A MANE Select	ENSP00000340409.4:p.Trp393Ter
ENST00000342245.8:c.1179G>A	ENSP00000340409.4:p.Trp393Ter
ENST00000526280.1:c.321-314G>A
ENST00000527275.5:c.1176G>A	ENSP00000435350.1:p.Trp392Ter
ENST00000531303.5:c.*10G>A	ENSP00000432625.1:n.*10G>A
ENST00000531336.1:n.11G>A
ENST00000533123.5:c.1092-314G>A	ENSP00000435950.1:n.1092-314G>A
ENST00000534405.5:c.*10G>A	ENSP00000434353.1:n.*10G>A
NM_000543.4:c.1179G>A	NP_000534.3:p.Trp393Ter
NM_001007593.2:c.1176G>A	NP_001007594.2:p.Trp392Ter
XM_005253075.3:c.1179G>A	XP_005253132.1:p.Trp393Ter
XM_011520303.1:c.1132-314G>A	XP_011518605.1:n.1132-314G>A
XM_011520304.1:c.1132-314G>A	XP_011518606.1:n.1132-314G>A
XR_930886.1:n.1517G>A
NM_001318087.1:c.1179G>A	NP_001305016.1:p.Trp393Ter
NM_001318088.1:c.258G>A	NP_001305017.1:p.Trp86Ter
NM_001365135.1:c.1132-314G>A	NP_001352064.1:n.1132-314G>A
NR_027400.2:n.1277-314G>A
NR_134502.1:n.711G>A
XM_011520304.2:c.1132-314G>A	XP_011518606.1:n.1132-314G>A
XR_001747940.2:n.1344G>A
XR_002957158.1:n.1344G>A
NM_000543.5:c.1179G>A MANE Select	NP_000534.3:p.Trp393Ter
NM_001007593.3:c.1176G>A	NP_001007594.2:p.Trp392Ter
NM_001318087.2:c.1179G>A	NP_001305016.1:p.Trp393Ter
NM_001318088.2:c.258G>A	NP_001305017.1:p.Trp86Ter
NM_001365135.2:c.1132-314G>A	NP_001352064.1:n.1132-314G>A
NR_027400.3:n.1217-314G>A
NR_134502.2:n.651G>A