Canonical Allele Identifier: CA379373119

Gene: SMPD1

Linked Data

• dbSNP Id: rs1413468114
• gnomAD v2: 11-6414514-G-C
• gnomAD v3: 11-6393284-G-C
• gnomAD v4: 11-6393284-G-C
• MyVariant Identifiers: chr11:g.6414514G>C (hg19) ; chr11:g.6393284G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393284G>C , CM000673.2:g.6393284G>C	GRCh38
NC_000011.9:g.6414514G>C , CM000673.1:g.6414514G>C	GRCh37
NC_000011.8:g.6371090G>C	NCBI36
NG_011780.1:g.7860G>C
NG_029615.1:g.31131C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1160G>C MANE Select	ENSP00000340409.4:p.Cys387Ser
ENST00000342245.8:c.1160G>C	ENSP00000340409.4:p.Cys387Ser
ENST00000526280.1:c.321-333G>C
ENST00000527275.5:c.1157G>C	ENSP00000435350.1:p.Cys386Ser
ENST00000531303.5:c.507G>C	ENSP00000432625.1:p.Leu169Phe
ENST00000533123.5:c.1092-333G>C	ENSP00000435950.1:n.1092-333G>C
ENST00000534405.5:c.1200G>C	ENSP00000434353.1:p.Leu400Phe
NM_000543.4:c.1160G>C	NP_000534.3:p.Cys387Ser
NM_001007593.2:c.1157G>C	NP_001007594.2:p.Cys386Ser
XM_005253075.3:c.1160G>C	XP_005253132.1:p.Cys387Ser
XM_011520303.1:c.1132-333G>C	XP_011518605.1:n.1132-333G>C
XM_011520304.1:c.1132-333G>C	XP_011518606.1:n.1132-333G>C
XR_930886.1:n.1498G>C
NM_001318087.1:c.1160G>C	NP_001305016.1:p.Cys387Ser
NM_001318088.1:c.239G>C	NP_001305017.1:p.Cys80Ser
NM_001365135.1:c.1132-333G>C	NP_001352064.1:n.1132-333G>C
NR_027400.2:n.1277-333G>C
NR_134502.1:n.692G>C
XM_011520304.2:c.1132-333G>C	XP_011518606.1:n.1132-333G>C
XR_001747940.2:n.1325G>C
XR_002957158.1:n.1325G>C
NM_000543.5:c.1160G>C MANE Select	NP_000534.3:p.Cys387Ser
NM_001007593.3:c.1157G>C	NP_001007594.2:p.Cys386Ser
NM_001318087.2:c.1160G>C	NP_001305016.1:p.Cys387Ser
NM_001318088.2:c.239G>C	NP_001305017.1:p.Cys80Ser
NM_001365135.2:c.1132-333G>C	NP_001352064.1:n.1132-333G>C
NR_027400.3:n.1217-333G>C
NR_134502.2:n.632G>C