Canonical Allele Identifier: CA252530

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2996
• ClinVar RCV Id: RCV000003131 ; RCV001379382
• dbSNP Id: rs267607074
• MyVariant Identifiers: chr11:g.6415191A>C (hg19) ; chr11:g.6393961A>C (hg38)
• PubMed: PMID:19405096

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393961A>C , CM000673.2:g.6393961A>C	GRCh38
NC_000011.9:g.6415191A>C , CM000673.1:g.6415191A>C	GRCh37
NC_000011.8:g.6371767A>C	NCBI36
NG_011780.1:g.8537A>C
NG_029615.1:g.30454T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1406A>C MANE Select	ENSP00000340409.4:p.Tyr469Ser
ENST00000342245.8:c.1406A>C	ENSP00000340409.4:p.Tyr469Ser
ENST00000526280.1:c.463A>C
ENST00000527275.5:c.1403A>C	ENSP00000435350.1:p.Tyr468Ser
ENST00000531303.5:c.*237A>C	ENSP00000432625.1:n.*237A>C
ENST00000531336.1:n.238A>C
ENST00000532367.1:n.242A>C
ENST00000533123.5:c.*133A>C	ENSP00000435950.1:n.*133A>C
ENST00000534405.5:c.*237A>C	ENSP00000434353.1:n.*237A>C
NM_000543.4:c.1406A>C	NP_000534.3:p.Tyr469Ser
NM_001007593.2:c.1403A>C	NP_001007594.2:p.Tyr468Ser
XM_005253075.3:c.1406A>C	XP_005253132.1:p.Tyr469Ser
XM_011520303.1:c.1274A>C	XP_011518605.1:p.Tyr425Ser
XM_011520304.1:c.1274A>C	XP_011518606.1:p.Tyr425Ser
XR_930886.1:n.1744A>C
NM_001318087.1:c.1406A>C	NP_001305016.1:p.Tyr469Ser
NM_001318088.1:c.485A>C	NP_001305017.1:p.Tyr162Ser
NM_001365135.1:c.1274A>C	NP_001352064.1:p.Tyr425Ser
NR_027400.2:n.1419A>C
NR_134502.1:n.938A>C
XM_011520304.2:c.1274A>C	XP_011518606.1:p.Tyr425Ser
XR_001747940.2:n.1571A>C
XR_002957158.1:n.1773A>C
NM_000543.5:c.1406A>C MANE Select	NP_000534.3:p.Tyr469Ser
NM_001007593.3:c.1403A>C	NP_001007594.2:p.Tyr468Ser
NM_001318087.2:c.1406A>C	NP_001305016.1:p.Tyr469Ser
NM_001318088.2:c.485A>C	NP_001305017.1:p.Tyr162Ser
NM_001365135.2:c.1274A>C	NP_001352064.1:p.Tyr425Ser
NR_027400.3:n.1359A>C
NR_134502.2:n.878A>C