Canonical Allele Identifier: CA379374374

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414884T>G (hg19) ; chr11:g.6393654T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393654T>G , CM000673.2:g.6393654T>G	GRCh38
NC_000011.9:g.6414884T>G , CM000673.1:g.6414884T>G	GRCh37
NC_000011.8:g.6371460T>G	NCBI36
NG_011780.1:g.8230T>G
NG_029615.1:g.30761A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1301T>G MANE Select	ENSP00000340409.4:p.Leu434Arg
ENST00000342245.8:c.1301T>G	ENSP00000340409.4:p.Leu434Arg
ENST00000526280.1:c.358T>G
ENST00000527275.5:c.1298T>G	ENSP00000435350.1:p.Leu433Arg
ENST00000531303.5:c.*132T>G	ENSP00000432625.1:n.*132T>G
ENST00000531336.1:n.133T>G
ENST00000532367.1:n.137T>G
ENST00000533123.5:c.*28T>G	ENSP00000435950.1:n.*28T>G
ENST00000534405.5:c.*132T>G	ENSP00000434353.1:n.*132T>G
NM_000543.4:c.1301T>G	NP_000534.3:p.Leu434Arg
NM_001007593.2:c.1298T>G	NP_001007594.2:p.Leu433Arg
XM_005253075.3:c.1301T>G	XP_005253132.1:p.Leu434Arg
XM_011520303.1:c.1169T>G	XP_011518605.1:p.Leu390Arg
XM_011520304.1:c.1169T>G	XP_011518606.1:p.Leu390Arg
XR_930886.1:n.1639T>G
NM_001318087.1:c.1301T>G	NP_001305016.1:p.Leu434Arg
NM_001318088.1:c.380T>G	NP_001305017.1:p.Leu127Arg
NM_001365135.1:c.1169T>G	NP_001352064.1:p.Leu390Arg
NR_027400.2:n.1314T>G
NR_134502.1:n.833T>G
XM_011520304.2:c.1169T>G	XP_011518606.1:p.Leu390Arg
XR_001747940.2:n.1466T>G
XR_002957158.1:n.1466T>G
NM_000543.5:c.1301T>G MANE Select	NP_000534.3:p.Leu434Arg
NM_001007593.3:c.1298T>G	NP_001007594.2:p.Leu433Arg
NM_001318087.2:c.1301T>G	NP_001305016.1:p.Leu434Arg
NM_001318088.2:c.380T>G	NP_001305017.1:p.Leu127Arg
NM_001365135.2:c.1169T>G	NP_001352064.1:p.Leu390Arg
NR_027400.3:n.1254T>G
NR_134502.2:n.773T>G