Canonical Allele Identifier: CA597262320

Gene: SMPD1

Linked Data

• dbSNP Id: rs563116210
• gnomAD v2: 11-6411732-G-C
• gnomAD v3: 11-6390502-G-C
• gnomAD v4: 11-6390502-G-C
• MyVariant Identifiers: chr11:g.6411732G>C (hg19) ; chr11:g.6390502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390502G>C , CM000673.2:g.6390502G>C	GRCh38
NC_000011.9:g.6411732G>C , CM000673.1:g.6411732G>C	GRCh37
NC_000011.8:g.6368308G>C	NCBI36
NG_011780.1:g.5078G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-97G>C MANE Select	ENSP00000340409.4:n.-97G>C
ENST00000342245.8:c.-97G>C	ENSP00000340409.4:n.-97G>C
ENST00000527275.5:c.-97G>C	ENSP00000435350.1:n.-97G>C
ENST00000530395.1:c.-233G>C	ENSP00000431479.1:n.-233G>C
ENST00000533196.1:n.63G>C
ENST00000534405.5:c.-97G>C	ENSP00000434353.1:n.-97G>C
NM_000543.4:c.-97G>C	NP_000534.3:n.-97G>C
NM_001007593.2:c.-97G>C	NP_001007594.2:n.-97G>C
XM_005253075.3:c.-97G>C	XP_005253132.1:n.-97G>C
XM_011520303.1:c.-97G>C	XP_011518605.1:n.-97G>C
XM_011520304.1:c.-97G>C	XP_011518606.1:n.-97G>C
XR_930886.1:n.202G>C
NM_001318087.1:c.-97G>C	NP_001305016.1:n.-97G>C
NM_001318088.1:c.-1058G>C	NP_001305017.1:n.-1058G>C
NM_001365135.1:c.-97G>C	NP_001352064.1:n.-97G>C
NR_027400.2:n.89G>C
NR_134502.1:n.89G>C
XM_011520304.2:c.-97G>C	XP_011518606.1:n.-97G>C
XR_001747940.2:n.29G>C
XR_002957158.1:n.29G>C
NM_000543.5:c.-97G>C MANE Select	NP_000534.3:n.-97G>C
NM_001007593.3:c.-97G>C	NP_001007594.2:n.-97G>C
NM_001318087.2:c.-97G>C	NP_001305016.1:n.-97G>C
NM_001318088.2:c.-1058G>C	NP_001305017.1:n.-1058G>C
NM_001365135.2:c.-97G>C	NP_001352064.1:n.-97G>C
NR_027400.3:n.29G>C
NR_134502.2:n.29G>C