Canonical Allele Identifier: CA379374740

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393899-T-G
• MyVariant Identifiers: chr11:g.6415129T>G (hg19) ; chr11:g.6393899T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393899T>G , CM000673.2:g.6393899T>G	GRCh38
NC_000011.9:g.6415129T>G , CM000673.1:g.6415129T>G	GRCh37
NC_000011.8:g.6371705T>G	NCBI36
NG_011780.1:g.8475T>G
NG_029615.1:g.30516A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1344T>G MANE Select	ENSP00000340409.4:p.Tyr448Ter
ENST00000342245.8:c.1344T>G	ENSP00000340409.4:p.Tyr448Ter
ENST00000526280.1:c.401T>G
ENST00000527275.5:c.1341T>G	ENSP00000435350.1:p.Tyr447Ter
ENST00000531303.5:c.*175T>G	ENSP00000432625.1:n.*175T>G
ENST00000531336.1:n.176T>G
ENST00000532367.1:n.180T>G
ENST00000533123.5:c.*71T>G	ENSP00000435950.1:n.*71T>G
ENST00000534405.5:c.*175T>G	ENSP00000434353.1:n.*175T>G
NM_000543.4:c.1344T>G	NP_000534.3:p.Tyr448Ter
NM_001007593.2:c.1341T>G	NP_001007594.2:p.Tyr447Ter
XM_005253075.3:c.1344T>G	XP_005253132.1:p.Tyr448Ter
XM_011520303.1:c.1212T>G	XP_011518605.1:p.Tyr404Ter
XM_011520304.1:c.1212T>G	XP_011518606.1:p.Tyr404Ter
XR_930886.1:n.1682T>G
NM_001318087.1:c.1344T>G	NP_001305016.1:p.Tyr448Ter
NM_001318088.1:c.423T>G	NP_001305017.1:p.Tyr141Ter
NM_001365135.1:c.1212T>G	NP_001352064.1:p.Tyr404Ter
NR_027400.2:n.1357T>G
NR_134502.1:n.876T>G
XM_011520304.2:c.1212T>G	XP_011518606.1:p.Tyr404Ter
XR_001747940.2:n.1509T>G
XR_002957158.1:n.1711T>G
NM_000543.5:c.1344T>G MANE Select	NP_000534.3:p.Tyr448Ter
NM_001007593.3:c.1341T>G	NP_001007594.2:p.Tyr447Ter
NM_001318087.2:c.1344T>G	NP_001305016.1:p.Tyr448Ter
NM_001318088.2:c.423T>G	NP_001305017.1:p.Tyr141Ter
NM_001365135.2:c.1212T>G	NP_001352064.1:p.Tyr404Ter
NR_027400.3:n.1297T>G
NR_134502.2:n.816T>G