Canonical Allele Identifier: CA379372777

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414459T>A (hg19) ; chr11:g.6393229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393229T>A , CM000673.2:g.6393229T>A	GRCh38
NC_000011.9:g.6414459T>A , CM000673.1:g.6414459T>A	GRCh37
NC_000011.8:g.6371035T>A	NCBI36
NG_011780.1:g.7805T>A
NG_029615.1:g.31186A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1105T>A MANE Select	ENSP00000340409.4:p.Tyr369Asn
ENST00000342245.8:c.1105T>A	ENSP00000340409.4:p.Tyr369Asn
ENST00000526280.1:c.321-388T>A
ENST00000527275.5:c.1102T>A	ENSP00000435350.1:p.Tyr368Asn
ENST00000531303.5:c.452T>A	ENSP00000432625.1:p.Leu151Gln
ENST00000533123.5:c.1092-388T>A	ENSP00000435950.1:n.1092-388T>A
ENST00000534405.5:c.1145T>A	ENSP00000434353.1:p.Leu382Gln
NM_000543.4:c.1105T>A	NP_000534.3:p.Tyr369Asn
NM_001007593.2:c.1102T>A	NP_001007594.2:p.Tyr368Asn
XM_005253075.3:c.1105T>A	XP_005253132.1:p.Tyr369Asn
XM_011520303.1:c.1132-388T>A	XP_011518605.1:n.1132-388T>A
XM_011520304.1:c.1132-388T>A	XP_011518606.1:n.1132-388T>A
XR_930886.1:n.1443T>A
NM_001318087.1:c.1105T>A	NP_001305016.1:p.Tyr369Asn
NM_001318088.1:c.184T>A	NP_001305017.1:p.Tyr62Asn
NM_001365135.1:c.1132-388T>A	NP_001352064.1:n.1132-388T>A
NR_027400.2:n.1277-388T>A
NR_134502.1:n.637T>A
XM_011520304.2:c.1132-388T>A	XP_011518606.1:n.1132-388T>A
XR_001747940.2:n.1270T>A
XR_002957158.1:n.1270T>A
NM_000543.5:c.1105T>A MANE Select	NP_000534.3:p.Tyr369Asn
NM_001007593.3:c.1102T>A	NP_001007594.2:p.Tyr368Asn
NM_001318087.2:c.1105T>A	NP_001305016.1:p.Tyr369Asn
NM_001318088.2:c.184T>A	NP_001305017.1:p.Tyr62Asn
NM_001365135.2:c.1132-388T>A	NP_001352064.1:n.1132-388T>A
NR_027400.3:n.1217-388T>A
NR_134502.2:n.577T>A