Canonical Allele Identifier: CA379376686

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415609C>G (hg19) ; chr11:g.6394379C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394379C>G , CM000673.2:g.6394379C>G	GRCh38
NC_000011.9:g.6415609C>G , CM000673.1:g.6415609C>G	GRCh37
NC_000011.8:g.6372185C>G	NCBI36
NG_011780.1:g.8955C>G
NG_029615.1:g.30036G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1668C>G MANE Select	ENSP00000340409.4:p.His556Gln
ENST00000342245.8:c.1668C>G	ENSP00000340409.4:p.His556Gln
ENST00000526280.1:c.725C>G
ENST00000527275.5:c.1665C>G	ENSP00000435350.1:p.His555Gln
ENST00000531303.5:c.*519C>G	ENSP00000432625.1:n.*519C>G
ENST00000533123.5:c.*395C>G	ENSP00000435950.1:n.*395C>G
ENST00000534405.5:c.*499C>G	ENSP00000434353.1:n.*499C>G
NM_000543.4:c.1668C>G	NP_000534.3:p.His556Gln
NM_001007593.2:c.1665C>G	NP_001007594.2:p.His555Gln
XM_005253075.3:c.*161C>G	XP_005253132.1:n.*161C>G
XM_011520303.1:c.1536C>G	XP_011518605.1:p.His512Gln
XM_011520304.1:c.*161C>G	XP_011518606.1:n.*161C>G
NM_001318087.1:c.*161C>G	NP_001305016.1:n.*161C>G
NM_001318088.1:c.747C>G	NP_001305017.1:p.His249Gln
NM_001365135.1:c.1536C>G	NP_001352064.1:p.His512Gln
NR_027400.2:n.1681C>G
NR_134502.1:n.1220C>G
XM_011520304.2:c.*161C>G	XP_011518606.1:n.*161C>G
XR_001747940.2:n.1853C>G
XR_002957158.1:n.2035C>G
NM_000543.5:c.1668C>G MANE Select	NP_000534.3:p.His556Gln
NM_001007593.3:c.1665C>G	NP_001007594.2:p.His555Gln
NM_001318087.2:c.*161C>G	NP_001305016.1:n.*161C>G
NM_001318088.2:c.747C>G	NP_001305017.1:p.His249Gln
NM_001365135.2:c.1536C>G	NP_001352064.1:p.His512Gln
NR_027400.3:n.1621C>G
NR_134502.2:n.1160C>G