Canonical Allele Identifier: CA379375715

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1173986
• ClinVar RCV Id: RCV001527441
• dbSNP Id: rs2134022652
• MyVariant Identifiers: chr11:g.6415427G>A (hg19) ; chr11:g.6394197G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394197G>A , CM000673.2:g.6394197G>A	GRCh38
NC_000011.9:g.6415427G>A , CM000673.1:g.6415427G>A	GRCh37
NC_000011.8:g.6372003G>A	NCBI36
NG_011780.1:g.8773G>A
NG_029615.1:g.30218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-1G>A MANE Select	ENSP00000340409.4:n.1487-1G>A
ENST00000342245.8:c.1487-1G>A	ENSP00000340409.4:n.1487-1G>A
ENST00000526280.1:c.544-1G>A
ENST00000527275.5:c.1484-1G>A	ENSP00000435350.1:n.1484-1G>A
ENST00000531303.5:c.*337G>A	ENSP00000432625.1:n.*337G>A
ENST00000531336.1:n.474G>A
ENST00000533123.5:c.*214-1G>A	ENSP00000435950.1:n.*214-1G>A
ENST00000534405.5:c.*318-1G>A	ENSP00000434353.1:n.*318-1G>A
NM_000543.4:c.1487-1G>A	NP_000534.3:n.1487-1G>A
NM_001007593.2:c.1484-1G>A	NP_001007594.2:n.1484-1G>A
XM_005253075.3:c.1506G>A	XP_005253132.1:p.Gln502=
XM_011520303.1:c.1355-1G>A	XP_011518605.1:n.1355-1G>A
XM_011520304.1:c.1374G>A	XP_011518606.1:p.Gln458=
NM_001318087.1:c.1506G>A	NP_001305016.1:p.Gln502=
NM_001318088.1:c.566-1G>A	NP_001305017.1:n.566-1G>A
NM_001365135.1:c.1355-1G>A	NP_001352064.1:n.1355-1G>A
NR_027400.2:n.1500-1G>A
NR_134502.1:n.1038G>A
XM_011520304.2:c.1374G>A	XP_011518606.1:p.Gln458=
XR_001747940.2:n.1671G>A
XR_002957158.1:n.1854-1G>A
NM_000543.5:c.1487-1G>A MANE Select	NP_000534.3:n.1487-1G>A
NM_001007593.3:c.1484-1G>A	NP_001007594.2:n.1484-1G>A
NM_001318087.2:c.1506G>A	NP_001305016.1:p.Gln502=
NM_001318088.2:c.566-1G>A	NP_001305017.1:n.566-1G>A
NM_001365135.2:c.1355-1G>A	NP_001352064.1:n.1355-1G>A
NR_027400.3:n.1440-1G>A
NR_134502.2:n.978G>A