Canonical Allele Identifier: CA281616694

Gene: SPMIP8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.57985477C>G , CM000678.2:g.57985477C>G	GRCh38
NC_000016.9:g.58019381C>G , CM000678.1:g.58019381C>G	GRCh37
NC_000016.8:g.56576882C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_199456.3:c.523-5C>G MANE Select	NP_955535.3:n.523-5C>G
ENST00000441824.4:c.523-5C>G MANE Select	ENSP00000401917.3:n.523-5C>G
NM_199046.2:c.764C>G	NP_950247.2:p.Pro255Arg
NM_199046.3:c.599C>G	NP_950247.3:p.Pro200Arg
NM_199456.2:c.688-5C>G	NP_955535.2:n.688-5C>G
ENST00000290871.10:c.599C>G	ENSP00000290871.6:p.Pro200Arg
ENST00000290871.9:c.764C>G	ENSP00000290871.5:p.Pro255Arg
ENST00000441824.2:c.688-5C>G	ENSP00000401917.2:n.688-5C>G
ENST00000441824.3:c.523-5C>G	ENSP00000401917.3:n.523-5C>G
ENST00000562915.1:n.88-5C>G
ENST00000569996.5:n.357-5C>G
XM_011523069.1:c.461-5C>G	XP_011521371.1:n.461-5C>G
XM_017023218.1:c.461-5C>G	XP_016878707.1:n.461-5C>G