Canonical Allele Identifier: CA379374342

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414879C>A (hg19) ; chr11:g.6393649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393649C>A , CM000673.2:g.6393649C>A	GRCh38
NC_000011.9:g.6414879C>A , CM000673.1:g.6414879C>A	GRCh37
NC_000011.8:g.6371455C>A	NCBI36
NG_011780.1:g.8225C>A
NG_029615.1:g.30766G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1296C>A MANE Select	ENSP00000340409.4:p.His432Gln
ENST00000342245.8:c.1296C>A	ENSP00000340409.4:p.His432Gln
ENST00000526280.1:c.353C>A
ENST00000527275.5:c.1293C>A	ENSP00000435350.1:p.His431Gln
ENST00000531303.5:c.*127C>A	ENSP00000432625.1:n.*127C>A
ENST00000531336.1:n.128C>A
ENST00000532367.1:n.132C>A
ENST00000533123.5:c.*23C>A	ENSP00000435950.1:n.*23C>A
ENST00000534405.5:c.*127C>A	ENSP00000434353.1:n.*127C>A
NM_000543.4:c.1296C>A	NP_000534.3:p.His432Gln
NM_001007593.2:c.1293C>A	NP_001007594.2:p.His431Gln
XM_005253075.3:c.1296C>A	XP_005253132.1:p.His432Gln
XM_011520303.1:c.1164C>A	XP_011518605.1:p.His388Gln
XM_011520304.1:c.1164C>A	XP_011518606.1:p.His388Gln
XR_930886.1:n.1634C>A
NM_001318087.1:c.1296C>A	NP_001305016.1:p.His432Gln
NM_001318088.1:c.375C>A	NP_001305017.1:p.His125Gln
NM_001365135.1:c.1164C>A	NP_001352064.1:p.His388Gln
NR_027400.2:n.1309C>A
NR_134502.1:n.828C>A
XM_011520304.2:c.1164C>A	XP_011518606.1:p.His388Gln
XR_001747940.2:n.1461C>A
XR_002957158.1:n.1461C>A
NM_000543.5:c.1296C>A MANE Select	NP_000534.3:p.His432Gln
NM_001007593.3:c.1293C>A	NP_001007594.2:p.His431Gln
NM_001318087.2:c.1296C>A	NP_001305016.1:p.His432Gln
NM_001318088.2:c.375C>A	NP_001305017.1:p.His125Gln
NM_001365135.2:c.1164C>A	NP_001352064.1:p.His388Gln
NR_027400.3:n.1249C>A
NR_134502.2:n.768C>A