Canonical Allele Identifier: CA379377293

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415775C>A (hg19) ; chr11:g.6394545C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394545C>A , CM000673.2:g.6394545C>A	GRCh38
NC_000011.9:g.6415775C>A , CM000673.1:g.6415775C>A	GRCh37
NC_000011.8:g.6372351C>A	NCBI36
NG_011780.1:g.9121C>A
NG_029615.1:g.29870G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1834C>A MANE Select	ENSP00000340409.4:p.Leu612Met
ENST00000342245.8:c.1834C>A	ENSP00000340409.4:p.Leu612Met
ENST00000526280.1:c.891C>A
ENST00000527275.5:c.1831C>A	ENSP00000435350.1:p.Leu611Met
ENST00000531303.5:c.*685C>A	ENSP00000432625.1:n.*685C>A
ENST00000533123.5:c.*561C>A	ENSP00000435950.1:n.*561C>A
ENST00000534405.5:c.*665C>A	ENSP00000434353.1:n.*665C>A
NM_000543.4:c.1834C>A	NP_000534.3:p.Leu612Met
NM_001007593.2:c.1831C>A	NP_001007594.2:p.Leu611Met
XM_005253075.3:c.*327C>A	XP_005253132.1:n.*327C>A
XM_011520303.1:c.1702C>A	XP_011518605.1:p.Leu568Met
XM_011520304.1:c.*327C>A	XP_011518606.1:n.*327C>A
NM_001318087.1:c.*327C>A	NP_001305016.1:n.*327C>A
NM_001318088.1:c.913C>A	NP_001305017.1:p.Leu305Met
NM_001365135.1:c.1702C>A	NP_001352064.1:p.Leu568Met
NR_027400.2:n.1847C>A
NR_134502.1:n.1386C>A
XM_011520304.2:c.*327C>A	XP_011518606.1:n.*327C>A
XR_001747940.2:n.2019C>A
XR_002957158.1:n.2201C>A
NM_000543.5:c.1834C>A MANE Select	NP_000534.3:p.Leu612Met
NM_001007593.3:c.1831C>A	NP_001007594.2:p.Leu611Met
NM_001318087.2:c.*327C>A	NP_001305016.1:n.*327C>A
NM_001318088.2:c.913C>A	NP_001305017.1:p.Leu305Met
NM_001365135.2:c.1702C>A	NP_001352064.1:p.Leu568Met
NR_027400.3:n.1787C>A
NR_134502.2:n.1326C>A