Canonical Allele Identifier: CA472910006

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415240C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394010C>G , CM000673.2:g.6394010C>G	GRCh38
NC_000011.9:g.6415240C>G , CM000673.1:g.6415240C>G	GRCh37
NC_000011.8:g.6371816C>G	NCBI36
NG_011780.1:g.8586C>G
NG_029615.1:g.30405G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1455C>G MANE Select	ENSP00000340409.4:p.Pro485=
ENST00000342245.8:c.1455C>G	ENSP00000340409.4:p.Pro485=
ENST00000526280.1:c.512C>G
ENST00000527275.5:c.1452C>G	ENSP00000435350.1:p.Pro484=
ENST00000531303.5:c.*286C>G	ENSP00000432625.1:n.*286C>G
ENST00000531336.1:n.287C>G
ENST00000532367.1:n.291C>G
ENST00000533123.5:c.*182C>G	ENSP00000435950.1:n.*182C>G
ENST00000534405.5:c.*286C>G	ENSP00000434353.1:n.*286C>G
NM_000543.4:c.1455C>G	NP_000534.3:p.Pro485=
NM_001007593.2:c.1452C>G	NP_001007594.2:p.Pro484=
XM_005253075.3:c.1455C>G	XP_005253132.1:p.Pro485=
XM_011520303.1:c.1323C>G	XP_011518605.1:p.Pro441=
XM_011520304.1:c.1323C>G	XP_011518606.1:p.Pro441=
XR_930886.1:n.1793C>G
NM_001318087.1:c.1455C>G	NP_001305016.1:p.Pro485=
NM_001318088.1:c.534C>G	NP_001305017.1:p.Pro178=
NM_001365135.1:c.1323C>G	NP_001352064.1:p.Pro441=
NR_027400.2:n.1468C>G
NR_134502.1:n.987C>G
XM_011520304.2:c.1323C>G	XP_011518606.1:p.Pro441=
XR_001747940.2:n.1620C>G
XR_002957158.1:n.1822C>G
NM_000543.5:c.1455C>G MANE Select	NP_000534.3:p.Pro485=
NM_001007593.3:c.1452C>G	NP_001007594.2:p.Pro484=
NM_001318087.2:c.1455C>G	NP_001305016.1:p.Pro485=
NM_001318088.2:c.534C>G	NP_001305017.1:p.Pro178=
NM_001365135.2:c.1323C>G	NP_001352064.1:p.Pro441=
NR_027400.3:n.1408C>G
NR_134502.2:n.927C>G