Canonical Allele Identifier: CA245141

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 197160
• ClinVar RCV Id: RCV000178119 ; RCV001852206
• dbSNP Id: rs794727629
• gnomAD v4: 11-6393633-A-T
• MyVariant Identifiers: chr11:g.6414863A>T (hg19) ; chr11:g.6393633A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393633A>T , CM000673.2:g.6393633A>T	GRCh38
NC_000011.9:g.6414863A>T , CM000673.1:g.6414863A>T	GRCh37
NC_000011.8:g.6371439A>T	NCBI36
NG_011780.1:g.8209A>T
NG_029615.1:g.30782T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1280A>T MANE Select	ENSP00000340409.4:p.His427Leu
ENST00000342245.8:c.1280A>T	ENSP00000340409.4:p.His427Leu
ENST00000526280.1:c.337A>T
ENST00000527275.5:c.1277A>T	ENSP00000435350.1:p.His426Leu
ENST00000531303.5:c.*111A>T	ENSP00000432625.1:n.*111A>T
ENST00000531336.1:n.112A>T
ENST00000532367.1:n.116A>T
ENST00000533123.5:c.*7A>T	ENSP00000435950.1:n.*7A>T
ENST00000534405.5:c.*111A>T	ENSP00000434353.1:n.*111A>T
NM_000543.4:c.1280A>T	NP_000534.3:p.His427Leu
NM_001007593.2:c.1277A>T	NP_001007594.2:p.His426Leu
XM_005253075.3:c.1280A>T	XP_005253132.1:p.His427Leu
XM_011520303.1:c.1148A>T	XP_011518605.1:p.His383Leu
XM_011520304.1:c.1148A>T	XP_011518606.1:p.His383Leu
XR_930886.1:n.1618A>T
NM_001318087.1:c.1280A>T	NP_001305016.1:p.His427Leu
NM_001318088.1:c.359A>T	NP_001305017.1:p.His120Leu
NM_001365135.1:c.1148A>T	NP_001352064.1:p.His383Leu
NR_027400.2:n.1293A>T
NR_134502.1:n.812A>T
XM_011520304.2:c.1148A>T	XP_011518606.1:p.His383Leu
XR_001747940.2:n.1445A>T
XR_002957158.1:n.1445A>T
NM_000543.5:c.1280A>T MANE Select	NP_000534.3:p.His427Leu
NM_001007593.3:c.1277A>T	NP_001007594.2:p.His426Leu
NM_001318087.2:c.1280A>T	NP_001305016.1:p.His427Leu
NM_001318088.2:c.359A>T	NP_001305017.1:p.His120Leu
NM_001365135.2:c.1148A>T	NP_001352064.1:p.His383Leu
NR_027400.3:n.1233A>T
NR_134502.2:n.752A>T