Canonical Allele Identifier: CA16607382

Gene: COG8 NIP7

Linked Data

• ClinVar Variation Id: 384556
• ClinVar RCV Id: RCV000420080
• dbSNP Id: rs1057521994
• MyVariant Identifiers: chr16:g.69373305G>T (hg19) ; chr16:g.69339402G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69339402G>T , CM000678.2:g.69339402G>T	GRCh38
NC_000016.9:g.69373305G>T , CM000678.1:g.69373305G>T	GRCh37
NC_000016.8:g.67930806G>T	NCBI36
NG_009013.1:g.5222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000306875.10:c.151C>A (COG8) MANE Select	ENSP00000305459.6:p.Arg51=
ENST00000563364.3:n.1407G>T (NIP7)
ENST00000306875.8:c.151C>A (COG8)	ENSP00000305459.4:p.Arg51=
ENST00000562081.2:c.151C>A (COG8)	ENSP00000455954.1:p.Arg51=
ENST00000562595.5:c.92C>A (COG8)
ENST00000563634.1:c.3-2690C>A	ENSP00000454500.1:n.3-2690C>A
ENST00000564737.1:c.467-2690C>A
ENST00000570293.5:c.317-2690C>A	ENSP00000464417.1:n.317-2690C>A
ENST00000615447.1:c.105C>A (COG8)
NM_032382.4:c.151C>A (COG8)	NP_115758.3:p.Arg51=
NM_001374871.1:c.151C>A (COG8)	NP_001361800.1:p.Arg51=
NM_032382.5:c.151C>A (COG8) MANE Select	NP_115758.3:p.Arg51=
NM_001379261.1:c.151C>A (COG8)	NP_001366190.1:p.Arg51=
NM_001379262.1:c.151C>A (COG8)	NP_001366191.1:p.Arg51=
NM_001379263.1:c.151C>A (COG8)	NP_001366192.1:p.Arg51=
NM_001379264.1:c.151C>A (COG8)	NP_001366193.1:p.Arg51=
NM_001379265.1:c.151C>A (COG8)	NP_001366194.1:p.Arg51=
NM_001379266.1:c.151C>A (COG8)	NP_001366195.1:p.Arg51=