Canonical Allele Identifier: CA379373037

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848017682
• gnomAD v3: 11-6393275-T-C
• gnomAD v4: 11-6393275-T-C
• MyVariant Identifiers: chr11:g.6414505T>C (hg19) ; chr11:g.6393275T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393275T>C , CM000673.2:g.6393275T>C	GRCh38
NC_000011.9:g.6414505T>C , CM000673.1:g.6414505T>C	GRCh37
NC_000011.8:g.6371081T>C	NCBI36
NG_011780.1:g.7851T>C
NG_029615.1:g.31140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1151T>C MANE Select	ENSP00000340409.4:p.Met384Thr
ENST00000342245.8:c.1151T>C	ENSP00000340409.4:p.Met384Thr
ENST00000526280.1:c.321-342T>C
ENST00000527275.5:c.1148T>C	ENSP00000435350.1:p.Met383Thr
ENST00000531303.5:c.498T>C	ENSP00000432625.1:p.Tyr166=
ENST00000533123.5:c.1092-342T>C	ENSP00000435950.1:n.1092-342T>C
ENST00000534405.5:c.1191T>C	ENSP00000434353.1:p.Tyr397=
NM_000543.4:c.1151T>C	NP_000534.3:p.Met384Thr
NM_001007593.2:c.1148T>C	NP_001007594.2:p.Met383Thr
XM_005253075.3:c.1151T>C	XP_005253132.1:p.Met384Thr
XM_011520303.1:c.1132-342T>C	XP_011518605.1:n.1132-342T>C
XM_011520304.1:c.1132-342T>C	XP_011518606.1:n.1132-342T>C
XR_930886.1:n.1489T>C
NM_001318087.1:c.1151T>C	NP_001305016.1:p.Met384Thr
NM_001318088.1:c.230T>C	NP_001305017.1:p.Met77Thr
NM_001365135.1:c.1132-342T>C	NP_001352064.1:n.1132-342T>C
NR_027400.2:n.1277-342T>C
NR_134502.1:n.683T>C
XM_011520304.2:c.1132-342T>C	XP_011518606.1:n.1132-342T>C
XR_001747940.2:n.1316T>C
XR_002957158.1:n.1316T>C
NM_000543.5:c.1151T>C MANE Select	NP_000534.3:p.Met384Thr
NM_001007593.3:c.1148T>C	NP_001007594.2:p.Met383Thr
NM_001318087.2:c.1151T>C	NP_001305016.1:p.Met384Thr
NM_001318088.2:c.230T>C	NP_001305017.1:p.Met77Thr
NM_001365135.2:c.1132-342T>C	NP_001352064.1:n.1132-342T>C
NR_027400.3:n.1217-342T>C
NR_134502.2:n.623T>C