Canonical Allele Identifier: CA252515

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2986
• ClinVar RCV Id: RCV000003120 ; RCV000596113
• dbSNP Id: rs120074121
• MyVariant Identifiers: chr11:g.6414506G>A (hg19) ; chr11:g.6393276G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393276G>A , CM000673.2:g.6393276G>A	GRCh38
NC_000011.9:g.6414506G>A , CM000673.1:g.6414506G>A	GRCh37
NC_000011.8:g.6371082G>A	NCBI36
NG_011780.1:g.7852G>A
NG_029615.1:g.31139C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1152G>A MANE Select	ENSP00000340409.4:p.Met384Ile
ENST00000342245.8:c.1152G>A	ENSP00000340409.4:p.Met384Ile
ENST00000526280.1:c.321-341G>A
ENST00000527275.5:c.1149G>A	ENSP00000435350.1:p.Met383Ile
ENST00000531303.5:c.499G>A	ENSP00000432625.1:p.Glu167Lys
ENST00000533123.5:c.1092-341G>A	ENSP00000435950.1:n.1092-341G>A
ENST00000534405.5:c.1192G>A	ENSP00000434353.1:p.Glu398Lys
NM_000543.4:c.1152G>A	NP_000534.3:p.Met384Ile
NM_001007593.2:c.1149G>A	NP_001007594.2:p.Met383Ile
XM_005253075.3:c.1152G>A	XP_005253132.1:p.Met384Ile
XM_011520303.1:c.1132-341G>A	XP_011518605.1:n.1132-341G>A
XM_011520304.1:c.1132-341G>A	XP_011518606.1:n.1132-341G>A
XR_930886.1:n.1490G>A
NM_001318087.1:c.1152G>A	NP_001305016.1:p.Met384Ile
NM_001318088.1:c.231G>A	NP_001305017.1:p.Met77Ile
NM_001365135.1:c.1132-341G>A	NP_001352064.1:n.1132-341G>A
NR_027400.2:n.1277-341G>A
NR_134502.1:n.684G>A
XM_011520304.2:c.1132-341G>A	XP_011518606.1:n.1132-341G>A
XR_001747940.2:n.1317G>A
XR_002957158.1:n.1317G>A
NM_000543.5:c.1152G>A MANE Select	NP_000534.3:p.Met384Ile
NM_001007593.3:c.1149G>A	NP_001007594.2:p.Met383Ile
NM_001318087.2:c.1152G>A	NP_001305016.1:p.Met384Ile
NM_001318088.2:c.231G>A	NP_001305017.1:p.Met77Ile
NM_001365135.2:c.1132-341G>A	NP_001352064.1:n.1132-341G>A
NR_027400.3:n.1217-341G>A
NR_134502.2:n.624G>A