Canonical Allele Identifier: CA217298843

Gene: SMPD1

Linked Data

• dbSNP Id: rs372965365
• gnomAD v2: 11-6411696-C-T
• gnomAD v3: 11-6390466-C-T
• gnomAD v4: 11-6390466-C-T
• MyVariant Identifiers: chr11:g.6411696C>T (hg19) ; chr11:g.6390466C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390466C>T , CM000673.2:g.6390466C>T	GRCh38
NC_000011.9:g.6411696C>T , CM000673.1:g.6411696C>T	GRCh37
NC_000011.8:g.6368272C>T	NCBI36
NG_011780.1:g.5042C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-133C>T	ENSP00000340409.4:n.-133C>T
ENST00000530395.1:c.-269C>T	ENSP00000431479.1:n.-269C>T
ENST00000533196.1:n.27C>T
NM_000543.4:c.-133C>T	NP_000534.3:n.-133C>T
NM_001007593.2:c.-133C>T	NP_001007594.2:n.-133C>T
XM_005253075.3:c.-133C>T	XP_005253132.1:n.-133C>T
XM_011520303.1:c.-133C>T	XP_011518605.1:n.-133C>T
XM_011520304.1:c.-133C>T	XP_011518606.1:n.-133C>T
XR_930886.1:n.166C>T
NM_001318087.1:c.-133C>T	NP_001305016.1:n.-133C>T
NM_001318088.1:c.-1094C>T	NP_001305017.1:n.-1094C>T
NR_027400.2:n.53C>T
NR_134502.1:n.53C>T