Canonical Allele Identifier: CA379372718

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393221-G-C
• MyVariant Identifiers: chr11:g.6414451G>C (hg19) ; chr11:g.6393221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393221G>C , CM000673.2:g.6393221G>C	GRCh38
NC_000011.9:g.6414451G>C , CM000673.1:g.6414451G>C	GRCh37
NC_000011.8:g.6371027G>C	NCBI36
NG_011780.1:g.7797G>C
NG_029615.1:g.31194C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1097G>C MANE Select	ENSP00000340409.4:p.Gly366Ala
ENST00000342245.8:c.1097G>C	ENSP00000340409.4:p.Gly366Ala
ENST00000526280.1:c.321-396G>C
ENST00000527275.5:c.1094G>C	ENSP00000435350.1:p.Gly365Ala
ENST00000531303.5:c.444G>C	ENSP00000432625.1:p.Trp148Cys
ENST00000533123.5:c.1092-396G>C	ENSP00000435950.1:n.1092-396G>C
ENST00000534405.5:c.1137G>C	ENSP00000434353.1:p.Trp379Cys
NM_000543.4:c.1097G>C	NP_000534.3:p.Gly366Ala
NM_001007593.2:c.1094G>C	NP_001007594.2:p.Gly365Ala
XM_005253075.3:c.1097G>C	XP_005253132.1:p.Gly366Ala
XM_011520303.1:c.1132-396G>C	XP_011518605.1:n.1132-396G>C
XM_011520304.1:c.1132-396G>C	XP_011518606.1:n.1132-396G>C
XR_930886.1:n.1435G>C
NM_001318087.1:c.1097G>C	NP_001305016.1:p.Gly366Ala
NM_001318088.1:c.176G>C	NP_001305017.1:p.Gly59Ala
NM_001365135.1:c.1132-396G>C	NP_001352064.1:n.1132-396G>C
NR_027400.2:n.1277-396G>C
NR_134502.1:n.629G>C
XM_011520304.2:c.1132-396G>C	XP_011518606.1:n.1132-396G>C
XR_001747940.2:n.1262G>C
XR_002957158.1:n.1262G>C
NM_000543.5:c.1097G>C MANE Select	NP_000534.3:p.Gly366Ala
NM_001007593.3:c.1094G>C	NP_001007594.2:p.Gly365Ala
NM_001318087.2:c.1097G>C	NP_001305016.1:p.Gly366Ala
NM_001318088.2:c.176G>C	NP_001305017.1:p.Gly59Ala
NM_001365135.2:c.1132-396G>C	NP_001352064.1:n.1132-396G>C
NR_027400.3:n.1217-396G>C
NR_134502.2:n.569G>C