Canonical Allele Identifier: CA292541

Gene: NHEJ1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219078082G>T , CM000664.2:g.219078082G>T	GRCh38
NC_000002.11:g.219942804G>T , CM000664.1:g.219942804G>T	GRCh37
NC_000002.10:g.219651048G>T	NCBI36
NG_007880.1:g.87784C>A , LRG_90:g.87784C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.713C>A	ENSP00000394896.2:p.Pro238His
ENST00000457600.3:c.706+7C>A	ENSP00000407201.2:n.706+7C>A
ENST00000698174.1:c.706+7C>A	ENSP00000513594.1:n.706+7C>A
ENST00000698175.1:c.*453+7C>A	ENSP00000513595.1:n.*453+7C>A
ENST00000698176.1:n.785C>A
ENST00000698202.1:c.706+7C>A	ENSP00000513605.1:n.706+7C>A
ENST00000698203.1:c.706+7C>A	ENSP00000513606.1:n.706+7C>A
ENST00000356853.10:c.706+7C>A MANE Select	ENSP00000349313.5:n.706+7C>A
ENST00000318673.6:c.*1828+7C>A	ENSP00000320919.3:n.*1828+7C>A
ENST00000356853.9:c.706+7C>A	ENSP00000349313.5:n.706+7C>A
ENST00000409720.5:c.706+7C>A	ENSP00000387290.1:n.706+7C>A
ENST00000418099.5:c.*89+7C>A	ENSP00000408966.1:n.*89+7C>A
ENST00000426304.5:c.473C>A	ENSP00000394896.1:p.Pro158His
ENST00000483627.1:n.390+7C>A
ENST00000491159.5:n.307C>A
ENST00000494211.5:n.272+7C>A
ENST00000498327.5:n.2976+7C>A
NM_024782.2:c.706+7C>A , LRG_90t1:c.706+7C>A	NP_079058.1:n.706+7C>A
NM_001377498.1:c.706+7C>A	NP_001364427.1:n.706+7C>A
NM_001377499.1:c.713C>A	NP_001364428.1:p.Pro238His
NM_024782.3:c.706+7C>A MANE Select	NP_079058.1:n.706+7C>A
NR_165304.1:n.884+7C>A