Canonical Allele Identifier: CA379374608

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1173975
• ClinVar RCV Id: RCV001527427 ; RCV003463044
• dbSNP Id: rs2134019797
• MyVariant Identifiers: chr11:g.6414923G>A (hg19) ; chr11:g.6393693G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393693G>A , CM000673.2:g.6393693G>A	GRCh38
NC_000011.9:g.6414923G>A , CM000673.1:g.6414923G>A	GRCh37
NC_000011.8:g.6371499G>A	NCBI36
NG_011780.1:g.8269G>A
NG_029615.1:g.30722C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1340G>A MANE Select	ENSP00000340409.4:p.Arg447Lys
ENST00000342245.8:c.1340G>A	ENSP00000340409.4:p.Arg447Lys
ENST00000526280.1:c.397G>A
ENST00000527275.5:c.1337G>A	ENSP00000435350.1:p.Arg446Lys
ENST00000531303.5:c.*171G>A	ENSP00000432625.1:n.*171G>A
ENST00000531336.1:n.172G>A
ENST00000532367.1:n.176G>A
ENST00000533123.5:c.*67G>A	ENSP00000435950.1:n.*67G>A
ENST00000534405.5:c.*171G>A	ENSP00000434353.1:n.*171G>A
NM_000543.4:c.1340G>A	NP_000534.3:p.Arg447Lys
NM_001007593.2:c.1337G>A	NP_001007594.2:p.Arg446Lys
XM_005253075.3:c.1340G>A	XP_005253132.1:p.Arg447Lys
XM_011520303.1:c.1208G>A	XP_011518605.1:p.Arg403Lys
XM_011520304.1:c.1208G>A	XP_011518606.1:p.Arg403Lys
XR_930886.1:n.1678G>A
NM_001318087.1:c.1340G>A	NP_001305016.1:p.Arg447Lys
NM_001318088.1:c.419G>A	NP_001305017.1:p.Arg140Lys
NM_001365135.1:c.1208G>A	NP_001352064.1:p.Arg403Lys
NR_027400.2:n.1353G>A
NR_134502.1:n.872G>A
XM_011520304.2:c.1208G>A	XP_011518606.1:p.Arg403Lys
XR_001747940.2:n.1505G>A
XR_002957158.1:n.1505G>A
NM_000543.5:c.1340G>A MANE Select	NP_000534.3:p.Arg447Lys
NM_001007593.3:c.1337G>A	NP_001007594.2:p.Arg446Lys
NM_001318087.2:c.1340G>A	NP_001305016.1:p.Arg447Lys
NM_001318088.2:c.419G>A	NP_001305017.1:p.Arg140Lys
NM_001365135.2:c.1208G>A	NP_001352064.1:p.Arg403Lys
NR_027400.3:n.1293G>A
NR_134502.2:n.812G>A