Canonical Allele Identifier: CA16041489

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 370493
• ClinVar RCV Id: RCV000410839 ; RCV003114524 ; RCV003766123
• dbSNP Id: rs943924098
• MyVariant Identifiers: chr11:g.6415459C>G (hg19) ; chr11:g.6394229C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394229C>G , CM000673.2:g.6394229C>G	GRCh38
NC_000011.9:g.6415459C>G , CM000673.1:g.6415459C>G	GRCh37
NC_000011.8:g.6372035C>G	NCBI36
NG_011780.1:g.8805C>G
NG_029615.1:g.30186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1518C>G MANE Select	ENSP00000340409.4:p.Tyr506Ter
ENST00000342245.8:c.1518C>G	ENSP00000340409.4:p.Tyr506Ter
ENST00000526280.1:c.575C>G
ENST00000527275.5:c.1515C>G	ENSP00000435350.1:p.Tyr505Ter
ENST00000531303.5:c.*369C>G	ENSP00000432625.1:n.*369C>G
ENST00000531336.1:n.506C>G
ENST00000533123.5:c.*245C>G	ENSP00000435950.1:n.*245C>G
ENST00000534405.5:c.*349C>G	ENSP00000434353.1:n.*349C>G
NM_000543.4:c.1518C>G	NP_000534.3:p.Tyr506Ter
NM_001007593.2:c.1515C>G	NP_001007594.2:p.Tyr505Ter
XM_005253075.3:c.*11C>G	XP_005253132.1:n.*11C>G
XM_011520303.1:c.1386C>G	XP_011518605.1:p.Tyr462Ter
XM_011520304.1:c.*11C>G	XP_011518606.1:n.*11C>G
NM_001318087.1:c.*11C>G	NP_001305016.1:n.*11C>G
NM_001318088.1:c.597C>G	NP_001305017.1:p.Tyr199Ter
NM_001365135.1:c.1386C>G	NP_001352064.1:p.Tyr462Ter
NR_027400.2:n.1531C>G
NR_134502.1:n.1070C>G
XM_011520304.2:c.*11C>G	XP_011518606.1:n.*11C>G
XR_001747940.2:n.1703C>G
XR_002957158.1:n.1885C>G
NM_000543.5:c.1518C>G MANE Select	NP_000534.3:p.Tyr506Ter
NM_001007593.3:c.1515C>G	NP_001007594.2:p.Tyr505Ter
NM_001318087.2:c.*11C>G	NP_001305016.1:n.*11C>G
NM_001318088.2:c.597C>G	NP_001305017.1:p.Tyr199Ter
NM_001365135.2:c.1386C>G	NP_001352064.1:p.Tyr462Ter
NR_027400.3:n.1471C>G
NR_134502.2:n.1010C>G