Canonical Allele Identifier: CA472909674

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2947269
• ClinVar RCV Id: RCV003801459
• MyVariant Identifiers: chr11:g.6413082T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391852T>C , CM000673.2:g.6391852T>C	GRCh38
NC_000011.9:g.6413082T>C , CM000673.1:g.6413082T>C	GRCh37
NC_000011.8:g.6369658T>C	NCBI36
NG_011780.1:g.6428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.787T>C MANE Select	ENSP00000340409.4:p.Leu263=
ENST00000342245.8:c.787T>C	ENSP00000340409.4:p.Leu263=
ENST00000527275.5:c.784T>C	ENSP00000435350.1:p.Leu262=
ENST00000530395.1:c.-33T>C	ENSP00000431479.1:n.-33T>C
ENST00000531303.5:c.438+349T>C	ENSP00000432625.1:n.438+349T>C
ENST00000533123.5:c.787T>C	ENSP00000435950.1:p.Leu263=
ENST00000533196.1:n.375-154T>C
ENST00000534405.5:c.787T>C	ENSP00000434353.1:p.Leu263=
NM_000543.4:c.787T>C	NP_000534.3:p.Leu263=
NM_001007593.2:c.784T>C	NP_001007594.2:p.Leu262=
XM_005253075.3:c.787T>C	XP_005253132.1:p.Leu263=
XM_011520303.1:c.787T>C	XP_011518605.1:p.Leu263=
XM_011520304.1:c.787T>C	XP_011518606.1:p.Leu263=
XR_930886.1:n.1085T>C
NM_001318087.1:c.787T>C	NP_001305016.1:p.Leu263=
NM_001318088.1:c.-175T>C	NP_001305017.1:n.-175T>C
NM_001365135.1:c.787T>C	NP_001352064.1:p.Leu263=
NR_027400.2:n.972T>C
NR_134502.1:n.623+349T>C
XM_011520304.2:c.787T>C	XP_011518606.1:p.Leu263=
XR_001747940.2:n.912T>C
XR_002957158.1:n.912T>C
NM_000543.5:c.787T>C MANE Select	NP_000534.3:p.Leu263=
NM_001007593.3:c.784T>C	NP_001007594.2:p.Leu262=
NM_001318087.2:c.787T>C	NP_001305016.1:p.Leu263=
NM_001318088.2:c.-175T>C	NP_001305017.1:n.-175T>C
NM_001365135.2:c.787T>C	NP_001352064.1:p.Leu263=
NR_027400.3:n.912T>C
NR_134502.2:n.563+349T>C