Canonical Allele Identifier: CA379374249

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2131195
• ClinVar RCV Id: RCV003061886
• dbSNP Id: rs760930408
• gnomAD v3: 11-6393632-C-T
• gnomAD v4: 11-6393632-C-T
• MyVariant Identifiers: chr11:g.6414862C>T (hg19) ; chr11:g.6393632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393632C>T , CM000673.2:g.6393632C>T	GRCh38
NC_000011.9:g.6414862C>T , CM000673.1:g.6414862C>T	GRCh37
NC_000011.8:g.6371438C>T	NCBI36
NG_011780.1:g.8208C>T
NG_029615.1:g.30783G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1279C>T MANE Select	ENSP00000340409.4:p.His427Tyr
ENST00000342245.8:c.1279C>T	ENSP00000340409.4:p.His427Tyr
ENST00000526280.1:c.336C>T
ENST00000527275.5:c.1276C>T	ENSP00000435350.1:p.His426Tyr
ENST00000531303.5:c.*110C>T	ENSP00000432625.1:n.*110C>T
ENST00000531336.1:n.111C>T
ENST00000532367.1:n.115C>T
ENST00000533123.5:c.*6C>T	ENSP00000435950.1:n.*6C>T
ENST00000534405.5:c.*110C>T	ENSP00000434353.1:n.*110C>T
NM_000543.4:c.1279C>T	NP_000534.3:p.His427Tyr
NM_001007593.2:c.1276C>T	NP_001007594.2:p.His426Tyr
XM_005253075.3:c.1279C>T	XP_005253132.1:p.His427Tyr
XM_011520303.1:c.1147C>T	XP_011518605.1:p.His383Tyr
XM_011520304.1:c.1147C>T	XP_011518606.1:p.His383Tyr
XR_930886.1:n.1617C>T
NM_001318087.1:c.1279C>T	NP_001305016.1:p.His427Tyr
NM_001318088.1:c.358C>T	NP_001305017.1:p.His120Tyr
NM_001365135.1:c.1147C>T	NP_001352064.1:p.His383Tyr
NR_027400.2:n.1292C>T
NR_134502.1:n.811C>T
XM_011520304.2:c.1147C>T	XP_011518606.1:p.His383Tyr
XR_001747940.2:n.1444C>T
XR_002957158.1:n.1444C>T
NM_000543.5:c.1279C>T MANE Select	NP_000534.3:p.His427Tyr
NM_001007593.3:c.1276C>T	NP_001007594.2:p.His426Tyr
NM_001318087.2:c.1279C>T	NP_001305016.1:p.His427Tyr
NM_001318088.2:c.358C>T	NP_001305017.1:p.His120Tyr
NM_001365135.2:c.1147C>T	NP_001352064.1:p.His383Tyr
NR_027400.3:n.1232C>T
NR_134502.2:n.751C>T