Canonical Allele Identifier: CA379372669

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414448T>A (hg19) ; chr11:g.6393218T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393218T>A , CM000673.2:g.6393218T>A	GRCh38
NC_000011.9:g.6414448T>A , CM000673.1:g.6414448T>A	GRCh37
NC_000011.8:g.6371024T>A	NCBI36
NG_011780.1:g.7794T>A
NG_029615.1:g.31197A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1094T>A MANE Select	ENSP00000340409.4:p.Ile365Asn
ENST00000342245.8:c.1094T>A	ENSP00000340409.4:p.Ile365Asn
ENST00000526280.1:c.321-399T>A
ENST00000527275.5:c.1091T>A	ENSP00000435350.1:p.Ile364Asn
ENST00000531303.5:c.441T>A	ENSP00000432625.1:p.Asn147Lys
ENST00000533123.5:c.1092-399T>A	ENSP00000435950.1:n.1092-399T>A
ENST00000534405.5:c.1134T>A	ENSP00000434353.1:p.Asn378Lys
NM_000543.4:c.1094T>A	NP_000534.3:p.Ile365Asn
NM_001007593.2:c.1091T>A	NP_001007594.2:p.Ile364Asn
XM_005253075.3:c.1094T>A	XP_005253132.1:p.Ile365Asn
XM_011520303.1:c.1132-399T>A	XP_011518605.1:n.1132-399T>A
XM_011520304.1:c.1132-399T>A	XP_011518606.1:n.1132-399T>A
XR_930886.1:n.1432T>A
NM_001318087.1:c.1094T>A	NP_001305016.1:p.Ile365Asn
NM_001318088.1:c.173T>A	NP_001305017.1:p.Ile58Asn
NM_001365135.1:c.1132-399T>A	NP_001352064.1:n.1132-399T>A
NR_027400.2:n.1277-399T>A
NR_134502.1:n.626T>A
XM_011520304.2:c.1132-399T>A	XP_011518606.1:n.1132-399T>A
XR_001747940.2:n.1259T>A
XR_002957158.1:n.1259T>A
NM_000543.5:c.1094T>A MANE Select	NP_000534.3:p.Ile365Asn
NM_001007593.3:c.1091T>A	NP_001007594.2:p.Ile364Asn
NM_001318087.2:c.1094T>A	NP_001305016.1:p.Ile365Asn
NM_001318088.2:c.173T>A	NP_001305017.1:p.Ile58Asn
NM_001365135.2:c.1132-399T>A	NP_001352064.1:n.1132-399T>A
NR_027400.3:n.1217-399T>A
NR_134502.2:n.566T>A