Canonical Allele Identifier: CA472910408

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415747T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394517T>G , CM000673.2:g.6394517T>G	GRCh38
NC_000011.9:g.6415747T>G , CM000673.1:g.6415747T>G	GRCh37
NC_000011.8:g.6372323T>G	NCBI36
NG_011780.1:g.9093T>G
NG_029615.1:g.29898A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1806T>G MANE Select	ENSP00000340409.4:p.Arg602=
ENST00000342245.8:c.1806T>G	ENSP00000340409.4:p.Arg602=
ENST00000526280.1:c.863T>G
ENST00000527275.5:c.1803T>G	ENSP00000435350.1:p.Arg601=
ENST00000531303.5:c.*657T>G	ENSP00000432625.1:n.*657T>G
ENST00000533123.5:c.*533T>G	ENSP00000435950.1:n.*533T>G
ENST00000534405.5:c.*637T>G	ENSP00000434353.1:n.*637T>G
NM_000543.4:c.1806T>G	NP_000534.3:p.Arg602=
NM_001007593.2:c.1803T>G	NP_001007594.2:p.Arg601=
XM_005253075.3:c.*299T>G	XP_005253132.1:n.*299T>G
XM_011520303.1:c.1674T>G	XP_011518605.1:p.Arg558=
XM_011520304.1:c.*299T>G	XP_011518606.1:n.*299T>G
NM_001318087.1:c.*299T>G	NP_001305016.1:n.*299T>G
NM_001318088.1:c.885T>G	NP_001305017.1:p.Arg295=
NM_001365135.1:c.1674T>G	NP_001352064.1:p.Arg558=
NR_027400.2:n.1819T>G
NR_134502.1:n.1358T>G
XM_011520304.2:c.*299T>G	XP_011518606.1:n.*299T>G
XR_001747940.2:n.1991T>G
XR_002957158.1:n.2173T>G
NM_000543.5:c.1806T>G MANE Select	NP_000534.3:p.Arg602=
NM_001007593.3:c.1803T>G	NP_001007594.2:p.Arg601=
NM_001318087.2:c.*299T>G	NP_001305016.1:n.*299T>G
NM_001318088.2:c.885T>G	NP_001305017.1:p.Arg295=
NM_001365135.2:c.1674T>G	NP_001352064.1:p.Arg558=
NR_027400.3:n.1759T>G
NR_134502.2:n.1298T>G