Canonical Allele Identifier: CA5852930

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 498027
• ClinVar RCV Id: RCV000597582 ; RCV000883903 ; RCV001829642 ; RCV001565653 ; RCV003160012 ; RCV003945387
• dbSNP Id: rs140806787
• ExAC: 11:6415475 G / A
• gnomAD v2: 11-6415475-G-A
• gnomAD v3: 11-6394245-G-A
• gnomAD v4: 11-6394245-G-A
• COSMIC: COSM1226890 ; COSM1226891
• MyVariant Identifiers: chr11:g.6415475G>A (hg19) ; chr11:g.6394245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394245G>A , CM000673.2:g.6394245G>A	GRCh38
NC_000011.9:g.6415475G>A , CM000673.1:g.6415475G>A	GRCh37
NC_000011.8:g.6372051G>A	NCBI36
NG_011780.1:g.8821G>A
NG_029615.1:g.30170C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1534G>A MANE Select	ENSP00000340409.4:p.Val512Met
ENST00000342245.8:c.1534G>A	ENSP00000340409.4:p.Val512Met
ENST00000526280.1:c.591G>A
ENST00000527275.5:c.1531G>A	ENSP00000435350.1:p.Val511Met
ENST00000531303.5:c.*385G>A	ENSP00000432625.1:n.*385G>A
ENST00000531336.1:n.522G>A
ENST00000533123.5:c.*261G>A	ENSP00000435950.1:n.*261G>A
ENST00000534405.5:c.*365G>A	ENSP00000434353.1:n.*365G>A
NM_000543.4:c.1534G>A	NP_000534.3:p.Val512Met
NM_001007593.2:c.1531G>A	NP_001007594.2:p.Val511Met
XM_005253075.3:c.*27G>A	XP_005253132.1:n.*27G>A
XM_011520303.1:c.1402G>A	XP_011518605.1:p.Val468Met
XM_011520304.1:c.*27G>A	XP_011518606.1:n.*27G>A
NM_001318087.1:c.*27G>A	NP_001305016.1:n.*27G>A
NM_001318088.1:c.613G>A	NP_001305017.1:p.Val205Met
NM_001365135.1:c.1402G>A	NP_001352064.1:p.Val468Met
NR_027400.2:n.1547G>A
NR_134502.1:n.1086G>A
XM_011520304.2:c.*27G>A	XP_011518606.1:n.*27G>A
XR_001747940.2:n.1719G>A
XR_002957158.1:n.1901G>A
NM_000543.5:c.1534G>A MANE Select	NP_000534.3:p.Val512Met
NM_001007593.3:c.1531G>A	NP_001007594.2:p.Val511Met
NM_001318087.2:c.*27G>A	NP_001305016.1:n.*27G>A
NM_001318088.2:c.613G>A	NP_001305017.1:p.Val205Met
NM_001365135.2:c.1402G>A	NP_001352064.1:p.Val468Met
NR_027400.3:n.1487G>A
NR_134502.2:n.1026G>A