Canonical Allele Identifier: CA597262314

Gene: SMPD1

Linked Data

• dbSNP Id: rs1327642790
• gnomAD v2: 11-6411707-C-T
• gnomAD v3: 11-6390477-C-T
• gnomAD v4: 11-6390477-C-T
• MyVariant Identifiers: chr11:g.6411707C>T (hg19) ; chr11:g.6390477C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390477C>T , CM000673.2:g.6390477C>T	GRCh38
NC_000011.9:g.6411707C>T , CM000673.1:g.6411707C>T	GRCh37
NC_000011.8:g.6368283C>T	NCBI36
NG_011780.1:g.5053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-122C>T MANE Select	ENSP00000340409.4:n.-122C>T
ENST00000342245.8:c.-122C>T	ENSP00000340409.4:n.-122C>T
ENST00000527275.5:c.-122C>T	ENSP00000435350.1:n.-122C>T
ENST00000530395.1:c.-258C>T	ENSP00000431479.1:n.-258C>T
ENST00000533196.1:n.38C>T
ENST00000534405.5:c.-122C>T	ENSP00000434353.1:n.-122C>T
NM_000543.4:c.-122C>T	NP_000534.3:n.-122C>T
NM_001007593.2:c.-122C>T	NP_001007594.2:n.-122C>T
XM_005253075.3:c.-122C>T	XP_005253132.1:n.-122C>T
XM_011520303.1:c.-122C>T	XP_011518605.1:n.-122C>T
XM_011520304.1:c.-122C>T	XP_011518606.1:n.-122C>T
XR_930886.1:n.177C>T
NM_001318087.1:c.-122C>T	NP_001305016.1:n.-122C>T
NM_001318088.1:c.-1083C>T	NP_001305017.1:n.-1083C>T
NM_001365135.1:c.-122C>T	NP_001352064.1:n.-122C>T
NR_027400.2:n.64C>T
NR_134502.1:n.64C>T
XM_011520304.2:c.-122C>T	XP_011518606.1:n.-122C>T
XR_001747940.2:n.4C>T
XR_002957158.1:n.4C>T
NM_000543.5:c.-122C>T MANE Select	NP_000534.3:n.-122C>T
NM_001007593.3:c.-122C>T	NP_001007594.2:n.-122C>T
NM_001318087.2:c.-122C>T	NP_001305016.1:n.-122C>T
NM_001318088.2:c.-1083C>T	NP_001305017.1:n.-1083C>T
NM_001365135.2:c.-122C>T	NP_001352064.1:n.-122C>T
NR_027400.3:n.4C>T
NR_134502.2:n.4C>T