Canonical Allele Identifier: CA379374550

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1052225
• ClinVar RCV Id: RCV001360368
• dbSNP Id: rs377609894
• MyVariant Identifiers: chr11:g.6414911G>C (hg19) ; chr11:g.6393681G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393681G>C , CM000673.2:g.6393681G>C	GRCh38
NC_000011.9:g.6414911G>C , CM000673.1:g.6414911G>C	GRCh37
NC_000011.8:g.6371487G>C	NCBI36
NG_011780.1:g.8257G>C
NG_029615.1:g.30734C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1328G>C MANE Select	ENSP00000340409.4:p.Arg443Pro
ENST00000342245.8:c.1328G>C	ENSP00000340409.4:p.Arg443Pro
ENST00000526280.1:c.385G>C
ENST00000527275.5:c.1325G>C	ENSP00000435350.1:p.Arg442Pro
ENST00000531303.5:c.*159G>C	ENSP00000432625.1:n.*159G>C
ENST00000531336.1:n.160G>C
ENST00000532367.1:n.164G>C
ENST00000533123.5:c.*55G>C	ENSP00000435950.1:n.*55G>C
ENST00000534405.5:c.*159G>C	ENSP00000434353.1:n.*159G>C
NM_000543.4:c.1328G>C	NP_000534.3:p.Arg443Pro
NM_001007593.2:c.1325G>C	NP_001007594.2:p.Arg442Pro
XM_005253075.3:c.1328G>C	XP_005253132.1:p.Arg443Pro
XM_011520303.1:c.1196G>C	XP_011518605.1:p.Arg399Pro
XM_011520304.1:c.1196G>C	XP_011518606.1:p.Arg399Pro
XR_930886.1:n.1666G>C
NM_001318087.1:c.1328G>C	NP_001305016.1:p.Arg443Pro
NM_001318088.1:c.407G>C	NP_001305017.1:p.Arg136Pro
NM_001365135.1:c.1196G>C	NP_001352064.1:p.Arg399Pro
NR_027400.2:n.1341G>C
NR_134502.1:n.860G>C
XM_011520304.2:c.1196G>C	XP_011518606.1:p.Arg399Pro
XR_001747940.2:n.1493G>C
XR_002957158.1:n.1493G>C
NM_000543.5:c.1328G>C MANE Select	NP_000534.3:p.Arg443Pro
NM_001007593.3:c.1325G>C	NP_001007594.2:p.Arg442Pro
NM_001318087.2:c.1328G>C	NP_001305016.1:p.Arg443Pro
NM_001318088.2:c.407G>C	NP_001305017.1:p.Arg136Pro
NM_001365135.2:c.1196G>C	NP_001352064.1:p.Arg399Pro
NR_027400.3:n.1281G>C
NR_134502.2:n.800G>C