Canonical Allele Identifier: CA679148474

Gene: SMPD1

Linked Data

• dbSNP Id: rs1168679360
• gnomAD v3: 11-6390463-G-C
• gnomAD v4: 11-6390463-G-C
• MyVariant Identifiers: chr11:g.6411693G>C (hg19) ; chr11:g.6390463G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390463G>C , CM000673.2:g.6390463G>C	GRCh38
NC_000011.9:g.6411693G>C , CM000673.1:g.6411693G>C	GRCh37
NC_000011.8:g.6368269G>C	NCBI36
NG_011780.1:g.5039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-136G>C	ENSP00000340409.4:n.-136G>C
ENST00000530395.1:c.-272G>C	ENSP00000431479.1:n.-272G>C
ENST00000533196.1:n.24G>C
NM_000543.4:c.-136G>C	NP_000534.3:n.-136G>C
NM_001007593.2:c.-136G>C	NP_001007594.2:n.-136G>C
XM_005253075.3:c.-136G>C	XP_005253132.1:n.-136G>C
XM_011520303.1:c.-136G>C	XP_011518605.1:n.-136G>C
XM_011520304.1:c.-136G>C	XP_011518606.1:n.-136G>C
XR_930886.1:n.163G>C
NM_001318087.1:c.-136G>C	NP_001305016.1:n.-136G>C
NM_001318088.1:c.-1097G>C	NP_001305017.1:n.-1097G>C
NR_027400.2:n.50G>C
NR_134502.1:n.50G>C