Canonical Allele Identifier: CA5852672

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 305198
• ClinVar RCV Id: RCV000267818 ; RCV000591908 ; RCV001280458 ; RCV001409993 ; RCV003338568 ; RCV003950025
• dbSNP Id: rs149476159
• ExAC: 11:6413024 C / T
• gnomAD v2: 11-6413024-C-T
• gnomAD v3: 11-6391794-C-T
• gnomAD v4: 11-6391794-C-T
• MyVariant Identifiers: chr11:g.6413024C>T (hg19) ; chr11:g.6391794C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391794C>T , CM000673.2:g.6391794C>T	GRCh38
NC_000011.9:g.6413024C>T , CM000673.1:g.6413024C>T	GRCh37
NC_000011.8:g.6369600C>T	NCBI36
NG_011780.1:g.6370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.729C>T MANE Select	ENSP00000340409.4:p.Ala243=
ENST00000342245.8:c.729C>T	ENSP00000340409.4:p.Ala243=
ENST00000527275.5:c.726C>T	ENSP00000435350.1:p.Ala242=
ENST00000530395.1:c.-91C>T	ENSP00000431479.1:n.-91C>T
ENST00000531303.5:c.438+291C>T	ENSP00000432625.1:n.438+291C>T
ENST00000533123.5:c.729C>T	ENSP00000435950.1:p.Ala243=
ENST00000533196.1:n.375-212C>T
ENST00000534405.5:c.729C>T	ENSP00000434353.1:p.Ala243=
NM_000543.4:c.729C>T	NP_000534.3:p.Ala243=
NM_001007593.2:c.726C>T	NP_001007594.2:p.Ala242=
XM_005253075.3:c.729C>T	XP_005253132.1:p.Ala243=
XM_011520303.1:c.729C>T	XP_011518605.1:p.Ala243=
XM_011520304.1:c.729C>T	XP_011518606.1:p.Ala243=
XR_930886.1:n.1027C>T
NM_001318087.1:c.729C>T	NP_001305016.1:p.Ala243=
NM_001318088.1:c.-233C>T	NP_001305017.1:n.-233C>T
NM_001365135.1:c.729C>T	NP_001352064.1:p.Ala243=
NR_027400.2:n.914C>T
NR_134502.1:n.623+291C>T
XM_011520304.2:c.729C>T	XP_011518606.1:p.Ala243=
XR_001747940.2:n.854C>T
XR_002957158.1:n.854C>T
NM_000543.5:c.729C>T MANE Select	NP_000534.3:p.Ala243=
NM_001007593.3:c.726C>T	NP_001007594.2:p.Ala242=
NM_001318087.2:c.729C>T	NP_001305016.1:p.Ala243=
NM_001318088.2:c.-233C>T	NP_001305017.1:n.-233C>T
NM_001365135.2:c.729C>T	NP_001352064.1:p.Ala243=
NR_027400.3:n.854C>T
NR_134502.2:n.563+291C>T