Canonical Allele Identifier: CA5852703

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 765427
• ClinVar RCV Id: RCV001497624
• dbSNP Id: rs371688255
• ExAC: 11:6413189 G / C
• gnomAD v2: 11-6413189-G-C
• gnomAD v3: 11-6391959-G-C
• gnomAD v4: 11-6391959-G-C
• MyVariant Identifiers: chr11:g.6413189G>C (hg19) ; chr11:g.6391959G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391959G>C , CM000673.2:g.6391959G>C	GRCh38
NC_000011.9:g.6413189G>C , CM000673.1:g.6413189G>C	GRCh37
NC_000011.8:g.6369765G>C	NCBI36
NG_011780.1:g.6535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.894G>C MANE Select	ENSP00000340409.4:p.Leu298=
ENST00000342245.8:c.894G>C	ENSP00000340409.4:p.Leu298=
ENST00000526280.1:c.83G>C
ENST00000527275.5:c.891G>C	ENSP00000435350.1:p.Leu297=
ENST00000530395.1:c.75G>C	ENSP00000431479.1:p.Leu25=
ENST00000531303.5:c.438+456G>C	ENSP00000432625.1:n.438+456G>C
ENST00000533123.5:c.894G>C	ENSP00000435950.1:p.Leu298=
ENST00000533196.1:n.375-47G>C
ENST00000534405.5:c.894G>C	ENSP00000434353.1:p.Leu298=
NM_000543.4:c.894G>C	NP_000534.3:p.Leu298=
NM_001007593.2:c.891G>C	NP_001007594.2:p.Leu297=
XM_005253075.3:c.894G>C	XP_005253132.1:p.Leu298=
XM_011520303.1:c.894G>C	XP_011518605.1:p.Leu298=
XM_011520304.1:c.894G>C	XP_011518606.1:p.Leu298=
XR_930886.1:n.1192G>C
NM_001318087.1:c.894G>C	NP_001305016.1:p.Leu298=
NM_001318088.1:c.-68G>C	NP_001305017.1:n.-68G>C
NM_001365135.1:c.894G>C	NP_001352064.1:p.Leu298=
NR_027400.2:n.1079G>C
NR_134502.1:n.623+456G>C
XM_011520304.2:c.894G>C	XP_011518606.1:p.Leu298=
XR_001747940.2:n.1019G>C
XR_002957158.1:n.1019G>C
NM_000543.5:c.894G>C MANE Select	NP_000534.3:p.Leu298=
NM_001007593.3:c.891G>C	NP_001007594.2:p.Leu297=
NM_001318087.2:c.894G>C	NP_001305016.1:p.Leu298=
NM_001318088.2:c.-68G>C	NP_001305017.1:n.-68G>C
NM_001365135.2:c.894G>C	NP_001352064.1:p.Leu298=
NR_027400.3:n.1019G>C
NR_134502.2:n.563+456G>C