Canonical Allele Identifier: CA5852621

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1085817
• ClinVar RCV Id: RCV001403379 ; RCV001831434 ; RCV003170012
• dbSNP Id: rs142147633
• ExAC: 11:6412829 C / T
• gnomAD v2: 11-6412829-C-T
• gnomAD v3: 11-6391599-C-T
• gnomAD v4: 11-6391599-C-T
• MyVariant Identifiers: chr11:g.6412829C>T (hg19) ; chr11:g.6391599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391599C>T , CM000673.2:g.6391599C>T	GRCh38
NC_000011.9:g.6412829C>T , CM000673.1:g.6412829C>T	GRCh37
NC_000011.8:g.6369405C>T	NCBI36
NG_011780.1:g.6175C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.534C>T MANE Select	ENSP00000340409.4:p.Ile178=
ENST00000342245.8:c.534C>T	ENSP00000340409.4:p.Ile178=
ENST00000527275.5:c.531C>T	ENSP00000435350.1:p.Ile177=
ENST00000530395.1:c.-95-191C>T	ENSP00000431479.1:n.-95-191C>T
ENST00000531303.5:c.438+96C>T	ENSP00000432625.1:n.438+96C>T
ENST00000533123.5:c.534C>T	ENSP00000435950.1:p.Ile178=
ENST00000533196.1:n.375-407C>T
ENST00000534405.5:c.534C>T	ENSP00000434353.1:p.Ile178=
NM_000543.4:c.534C>T	NP_000534.3:p.Ile178=
NM_001007593.2:c.531C>T	NP_001007594.2:p.Ile177=
XM_005253075.3:c.534C>T	XP_005253132.1:p.Ile178=
XM_011520303.1:c.534C>T	XP_011518605.1:p.Ile178=
XM_011520304.1:c.534C>T	XP_011518606.1:p.Ile178=
XR_930886.1:n.832C>T
NM_001318087.1:c.534C>T	NP_001305016.1:p.Ile178=
NM_001318088.1:c.-428C>T	NP_001305017.1:n.-428C>T
NM_001365135.1:c.534C>T	NP_001352064.1:p.Ile178=
NR_027400.2:n.719C>T
NR_134502.1:n.623+96C>T
XM_011520304.2:c.534C>T	XP_011518606.1:p.Ile178=
XR_001747940.2:n.659C>T
XR_002957158.1:n.659C>T
NM_000543.5:c.534C>T MANE Select	NP_000534.3:p.Ile178=
NM_001007593.3:c.531C>T	NP_001007594.2:p.Ile177=
NM_001318087.2:c.534C>T	NP_001305016.1:p.Ile178=
NM_001318088.2:c.-428C>T	NP_001305017.1:n.-428C>T
NM_001365135.2:c.534C>T	NP_001352064.1:p.Ile178=
NR_027400.3:n.659C>T
NR_134502.2:n.563+96C>T