Canonical Allele Identifier: CA379376821

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415644T>G (hg19) ; chr11:g.6394414T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394414T>G , CM000673.2:g.6394414T>G	GRCh38
NC_000011.9:g.6415644T>G , CM000673.1:g.6415644T>G	GRCh37
NC_000011.8:g.6372220T>G	NCBI36
NG_011780.1:g.8990T>G
NG_029615.1:g.30001A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1703T>G MANE Select	ENSP00000340409.4:p.Leu568Arg
ENST00000342245.8:c.1703T>G	ENSP00000340409.4:p.Leu568Arg
ENST00000526280.1:c.760T>G
ENST00000527275.5:c.1700T>G	ENSP00000435350.1:p.Leu567Arg
ENST00000531303.5:c.*554T>G	ENSP00000432625.1:n.*554T>G
ENST00000533123.5:c.*430T>G	ENSP00000435950.1:n.*430T>G
ENST00000534405.5:c.*534T>G	ENSP00000434353.1:n.*534T>G
NM_000543.4:c.1703T>G	NP_000534.3:p.Leu568Arg
NM_001007593.2:c.1700T>G	NP_001007594.2:p.Leu567Arg
XM_005253075.3:c.*196T>G	XP_005253132.1:n.*196T>G
XM_011520303.1:c.1571T>G	XP_011518605.1:p.Leu524Arg
XM_011520304.1:c.*196T>G	XP_011518606.1:n.*196T>G
NM_001318087.1:c.*196T>G	NP_001305016.1:n.*196T>G
NM_001318088.1:c.782T>G	NP_001305017.1:p.Leu261Arg
NM_001365135.1:c.1571T>G	NP_001352064.1:p.Leu524Arg
NR_027400.2:n.1716T>G
NR_134502.1:n.1255T>G
XM_011520304.2:c.*196T>G	XP_011518606.1:n.*196T>G
XR_001747940.2:n.1888T>G
XR_002957158.1:n.2070T>G
NM_000543.5:c.1703T>G MANE Select	NP_000534.3:p.Leu568Arg
NM_001007593.3:c.1700T>G	NP_001007594.2:p.Leu567Arg
NM_001318087.2:c.*196T>G	NP_001305016.1:n.*196T>G
NM_001318088.2:c.782T>G	NP_001305017.1:p.Leu261Arg
NM_001365135.2:c.1571T>G	NP_001352064.1:p.Leu524Arg
NR_027400.3:n.1656T>G
NR_134502.2:n.1195T>G