Canonical Allele Identifier: CA379376258

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415505A>G (hg19) ; chr11:g.6394275A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394275A>G , CM000673.2:g.6394275A>G	GRCh38
NC_000011.9:g.6415505A>G , CM000673.1:g.6415505A>G	GRCh37
NC_000011.8:g.6372081A>G	NCBI36
NG_011780.1:g.8851A>G
NG_029615.1:g.30140T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1564A>G MANE Select	ENSP00000340409.4:p.Asn522Asp
ENST00000342245.8:c.1564A>G	ENSP00000340409.4:p.Asn522Asp
ENST00000526280.1:c.621A>G
ENST00000527275.5:c.1561A>G	ENSP00000435350.1:p.Asn521Asp
ENST00000531303.5:c.*415A>G	ENSP00000432625.1:n.*415A>G
ENST00000531336.1:n.552A>G
ENST00000533123.5:c.*291A>G	ENSP00000435950.1:n.*291A>G
ENST00000534405.5:c.*395A>G	ENSP00000434353.1:n.*395A>G
NM_000543.4:c.1564A>G	NP_000534.3:p.Asn522Asp
NM_001007593.2:c.1561A>G	NP_001007594.2:p.Asn521Asp
XM_005253075.3:c.*57A>G	XP_005253132.1:n.*57A>G
XM_011520303.1:c.1432A>G	XP_011518605.1:p.Asn478Asp
XM_011520304.1:c.*57A>G	XP_011518606.1:n.*57A>G
NM_001318087.1:c.*57A>G	NP_001305016.1:n.*57A>G
NM_001318088.1:c.643A>G	NP_001305017.1:p.Asn215Asp
NM_001365135.1:c.1432A>G	NP_001352064.1:p.Asn478Asp
NR_027400.2:n.1577A>G
NR_134502.1:n.1116A>G
XM_011520304.2:c.*57A>G	XP_011518606.1:n.*57A>G
XR_001747940.2:n.1749A>G
XR_002957158.1:n.1931A>G
NM_000543.5:c.1564A>G MANE Select	NP_000534.3:p.Asn522Asp
NM_001007593.3:c.1561A>G	NP_001007594.2:p.Asn521Asp
NM_001318087.2:c.*57A>G	NP_001305016.1:n.*57A>G
NM_001318088.2:c.643A>G	NP_001305017.1:p.Asn215Asp
NM_001365135.2:c.1432A>G	NP_001352064.1:p.Asn478Asp
NR_027400.3:n.1517A>G
NR_134502.2:n.1056A>G