Canonical Allele Identifier: CA379376981

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415683C>G (hg19) ; chr11:g.6394453C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394453C>G , CM000673.2:g.6394453C>G	GRCh38
NC_000011.9:g.6415683C>G , CM000673.1:g.6415683C>G	GRCh37
NC_000011.8:g.6372259C>G	NCBI36
NG_011780.1:g.9029C>G
NG_029615.1:g.29962G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1742C>G MANE Select	ENSP00000340409.4:p.Pro581Arg
ENST00000342245.8:c.1742C>G	ENSP00000340409.4:p.Pro581Arg
ENST00000526280.1:c.799C>G
ENST00000527275.5:c.1739C>G	ENSP00000435350.1:p.Pro580Arg
ENST00000531303.5:c.*593C>G	ENSP00000432625.1:n.*593C>G
ENST00000533123.5:c.*469C>G	ENSP00000435950.1:n.*469C>G
ENST00000534405.5:c.*573C>G	ENSP00000434353.1:n.*573C>G
NM_000543.4:c.1742C>G	NP_000534.3:p.Pro581Arg
NM_001007593.2:c.1739C>G	NP_001007594.2:p.Pro580Arg
XM_005253075.3:c.*235C>G	XP_005253132.1:n.*235C>G
XM_011520303.1:c.1610C>G	XP_011518605.1:p.Pro537Arg
XM_011520304.1:c.*235C>G	XP_011518606.1:n.*235C>G
NM_001318087.1:c.*235C>G	NP_001305016.1:n.*235C>G
NM_001318088.1:c.821C>G	NP_001305017.1:p.Pro274Arg
NM_001365135.1:c.1610C>G	NP_001352064.1:p.Pro537Arg
NR_027400.2:n.1755C>G
NR_134502.1:n.1294C>G
XM_011520304.2:c.*235C>G	XP_011518606.1:n.*235C>G
XR_001747940.2:n.1927C>G
XR_002957158.1:n.2109C>G
NM_000543.5:c.1742C>G MANE Select	NP_000534.3:p.Pro581Arg
NM_001007593.3:c.1739C>G	NP_001007594.2:p.Pro580Arg
NM_001318087.2:c.*235C>G	NP_001305016.1:n.*235C>G
NM_001318088.2:c.821C>G	NP_001305017.1:p.Pro274Arg
NM_001365135.2:c.1610C>G	NP_001352064.1:p.Pro537Arg
NR_027400.3:n.1695C>G
NR_134502.2:n.1234C>G