Canonical Allele Identifier: CA2116807

Gene: NHEJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219076341G>A , CM000664.2:g.219076341G>A	GRCh38
NC_000002.11:g.219941063G>A , CM000664.1:g.219941063G>A	GRCh37
NC_000002.10:g.219649307G>A	NCBI36
NG_007880.1:g.89525C>T , LRG_90:g.89525C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_024782.3:c.*40C>T MANE Select	NP_079058.1:n.*40C>T
ENST00000356853.10:c.*40C>T MANE Select	ENSP00000349313.5:n.*40C>T
NM_001377498.1:c.*40C>T	NP_001364427.1:n.*40C>T
NM_001377499.1:c.*40C>T	NP_001364428.1:n.*40C>T
NM_024782.2:c.*40C>T , LRG_90t1:c.*40C>T	NP_079058.1:n.*40C>T
NR_165304.1:n.1118C>T
ENST00000318673.6:c.*2062C>T	ENSP00000320919.3:n.*2062C>T
ENST00000356853.9:c.*40C>T	ENSP00000349313.5:n.*40C>T
ENST00000409720.5:c.930C>T	ENSP00000387290.1:p.Asn310=
ENST00000418099.5:c.*323C>T	ENSP00000408966.1:n.*323C>T
ENST00000426304.5:c.715C>T	ENSP00000394896.1:n.715C>T
ENST00000426304.6:c.*40C>T	ENSP00000394896.2:n.*40C>T
ENST00000457600.3:c.*40C>T	ENSP00000407201.2:n.*40C>T
ENST00000491159.5:n.549C>T
ENST00000494211.5:n.506C>T
ENST00000498327.5:n.3210C>T
ENST00000698174.1:c.*40C>T	ENSP00000513594.1:n.*40C>T
ENST00000698175.1:c.*687C>T	ENSP00000513595.1:n.*687C>T
ENST00000698202.1:c.*40C>T	ENSP00000513605.1:n.*40C>T
ENST00000698203.1:c.*40C>T	ENSP00000513606.1:n.*40C>T