Canonical Allele Identifier: CA8134081

Gene: COG8 NIP7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69339534T>C , CM000678.2:g.69339534T>C	GRCh38
NC_000016.9:g.69373437T>C , CM000678.1:g.69373437T>C	GRCh37
NC_000016.8:g.67930938T>C	NCBI36
NG_009013.1:g.5090A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_032382.5:c.19A>G (COG8) MANE Select	NP_115758.3:p.Ile7Val
ENST00000306875.10:c.19A>G (COG8) MANE Select	ENSP00000305459.6:p.Ile7Val
NM_001199434.1:c.-296T>C (NIP7)	NP_001186363.1:n.-296T>C
NM_001374871.1:c.19A>G (COG8)	NP_001361800.1:p.Ile7Val
NM_001379261.1:c.19A>G (COG8)	NP_001366190.1:p.Ile7Val
NM_001379262.1:c.19A>G (COG8)	NP_001366191.1:p.Ile7Val
NM_001379263.1:c.19A>G (COG8)	NP_001366192.1:p.Ile7Val
NM_001379264.1:c.19A>G (COG8)	NP_001366193.1:p.Ile7Val
NM_001379265.1:c.19A>G (COG8)	NP_001366194.1:p.Ile7Val
NM_001379266.1:c.19A>G (COG8)	NP_001366195.1:p.Ile7Val
NM_016101.4:c.-296T>C (NIP7)	NP_057185.1:n.-296T>C
NM_032382.4:c.19A>G (COG8)	NP_115758.3:p.Ile7Val
ENST00000254940.9:c.-296T>C (NIP7)	ENSP00000254940.5:n.-296T>C
ENST00000306875.8:c.19A>G (COG8)	ENSP00000305459.4:p.Ile7Val
ENST00000562081.2:c.19A>G (COG8)	ENSP00000455954.1:p.Ile7Val
ENST00000563364.3:n.1539T>C (NIP7)
ENST00000563634.1:c.3-2822A>G	ENSP00000454500.1:n.3-2822A>G
ENST00000564737.1:c.467-2822A>G
ENST00000570293.5:c.317-2822A>G	ENSP00000464417.1:n.317-2822A>G