Canonical Allele Identifier: CA2116824

Gene: NHEJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219076421G>A , CM000664.2:g.219076421G>A	GRCh38
NC_000002.11:g.219941143G>A , CM000664.1:g.219941143G>A	GRCh37
NC_000002.10:g.219649387G>A	NCBI36
NG_007880.1:g.89445C>T , LRG_90:g.89445C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.875C>T	ENSP00000394896.2:p.Ser292Leu
ENST00000457600.3:c.860C>T	ENSP00000407201.2:p.Ser287Leu
ENST00000698174.1:c.860C>T	ENSP00000513594.1:p.Ser287Leu
ENST00000698175.1:c.*607C>T	ENSP00000513595.1:n.*607C>T
ENST00000698202.1:c.860C>T	ENSP00000513605.1:p.Ser287Leu
ENST00000698203.1:c.860C>T	ENSP00000513606.1:p.Ser287Leu
ENST00000356853.10:c.860C>T MANE Select	ENSP00000349313.5:p.Ser287Leu
ENST00000318673.6:c.*1982C>T	ENSP00000320919.3:n.*1982C>T
ENST00000356853.9:c.860C>T	ENSP00000349313.5:p.Ser287Leu
ENST00000409720.5:c.850C>T	ENSP00000387290.1:p.Gln284Ter
ENST00000418099.5:c.*243C>T	ENSP00000408966.1:n.*243C>T
ENST00000426304.5:c.635C>T	ENSP00000394896.1:p.Ser212Leu
ENST00000483627.1:n.544C>T
ENST00000491159.5:n.469C>T
ENST00000494211.5:n.426C>T
ENST00000498327.5:n.3130C>T
NM_024782.2:c.860C>T , LRG_90t1:c.860C>T	NP_079058.1:p.Ser287Leu
NM_001377498.1:c.860C>T	NP_001364427.1:p.Ser287Leu
NM_001377499.1:c.875C>T	NP_001364428.1:p.Ser292Leu
NM_024782.3:c.860C>T MANE Select	NP_079058.1:p.Ser287Leu
NR_165304.1:n.1038C>T