Canonical Allele Identifier: CA379375280

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415212G>T (hg19) ; chr11:g.6393982G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393982G>T , CM000673.2:g.6393982G>T	GRCh38
NC_000011.9:g.6415212G>T , CM000673.1:g.6415212G>T	GRCh37
NC_000011.8:g.6371788G>T	NCBI36
NG_011780.1:g.8558G>T
NG_029615.1:g.30433C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1427G>T MANE Select	ENSP00000340409.4:p.Arg476Leu
ENST00000342245.8:c.1427G>T	ENSP00000340409.4:p.Arg476Leu
ENST00000526280.1:c.484G>T
ENST00000527275.5:c.1424G>T	ENSP00000435350.1:p.Arg475Leu
ENST00000531303.5:c.*258G>T	ENSP00000432625.1:n.*258G>T
ENST00000531336.1:n.259G>T
ENST00000532367.1:n.263G>T
ENST00000533123.5:c.*154G>T	ENSP00000435950.1:n.*154G>T
ENST00000534405.5:c.*258G>T	ENSP00000434353.1:n.*258G>T
NM_000543.4:c.1427G>T	NP_000534.3:p.Arg476Leu
NM_001007593.2:c.1424G>T	NP_001007594.2:p.Arg475Leu
XM_005253075.3:c.1427G>T	XP_005253132.1:p.Arg476Leu
XM_011520303.1:c.1295G>T	XP_011518605.1:p.Arg432Leu
XM_011520304.1:c.1295G>T	XP_011518606.1:p.Arg432Leu
XR_930886.1:n.1765G>T
NM_001318087.1:c.1427G>T	NP_001305016.1:p.Arg476Leu
NM_001318088.1:c.506G>T	NP_001305017.1:p.Arg169Leu
NM_001365135.1:c.1295G>T	NP_001352064.1:p.Arg432Leu
NR_027400.2:n.1440G>T
NR_134502.1:n.959G>T
XM_011520304.2:c.1295G>T	XP_011518606.1:p.Arg432Leu
XR_001747940.2:n.1592G>T
XR_002957158.1:n.1794G>T
NM_000543.5:c.1427G>T MANE Select	NP_000534.3:p.Arg476Leu
NM_001007593.3:c.1424G>T	NP_001007594.2:p.Arg475Leu
NM_001318087.2:c.1427G>T	NP_001305016.1:p.Arg476Leu
NM_001318088.2:c.506G>T	NP_001305017.1:p.Arg169Leu
NM_001365135.2:c.1295G>T	NP_001352064.1:p.Arg432Leu
NR_027400.3:n.1380G>T
NR_134502.2:n.899G>T