Canonical Allele Identifier: CA679148461

Gene: SMPD1

Linked Data

• dbSNP Id: rs1342030828
• gnomAD v3: 11-6390436-A-T
• gnomAD v4: 11-6390436-A-T
• MyVariant Identifiers: chr11:g.6411666A>T (hg19) ; chr11:g.6390436A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390436A>T , CM000673.2:g.6390436A>T	GRCh38
NC_000011.9:g.6411666A>T , CM000673.1:g.6411666A>T	GRCh37
NC_000011.8:g.6368242A>T	NCBI36
NG_011780.1:g.5012A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-163A>T	ENSP00000340409.4:n.-163A>T
NM_000543.4:c.-163A>T	NP_000534.3:n.-163A>T
NM_001007593.2:c.-163A>T	NP_001007594.2:n.-163A>T
XM_005253075.3:c.-163A>T	XP_005253132.1:n.-163A>T
XM_011520303.1:c.-163A>T	XP_011518605.1:n.-163A>T
XM_011520304.1:c.-163A>T	XP_011518606.1:n.-163A>T
XR_930886.1:n.136A>T
NM_001318087.1:c.-163A>T	NP_001305016.1:n.-163A>T
NM_001318088.1:c.-1124A>T	NP_001305017.1:n.-1124A>T
NR_027400.2:n.23A>T
NR_134502.1:n.23A>T