Canonical Allele Identifier: CA350626821

Gene: NHEJ1

Linked Data

• MyVariant Identifiers: chr2:g.220011443G>C (hg19) ; chr2:g.219146721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.219146721G>C , CM000664.2:g.219146721G>C	GRCh38
NC_000002.11:g.220011443G>C , CM000664.1:g.220011443G>C	GRCh37
NC_000002.10:g.219719687G>C	NCBI36
NG_007880.1:g.19145C>G , LRG_90:g.19145C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426304.6:c.547C>G	ENSP00000394896.2:p.Pro183Ala
ENST00000457600.3:c.547C>G	ENSP00000407201.2:p.Pro183Ala
ENST00000698174.1:c.547C>G	ENSP00000513594.1:p.Pro183Ala
ENST00000698175.1:c.*294C>G	ENSP00000513595.1:n.*294C>G
ENST00000698176.1:n.619C>G
ENST00000698202.1:c.547C>G	ENSP00000513605.1:p.Pro183Ala
ENST00000698203.1:c.547C>G	ENSP00000513606.1:p.Pro183Ala
ENST00000356853.10:c.547C>G MANE Select	ENSP00000349313.5:p.Pro183Ala
ENST00000318673.6:c.*1669C>G	ENSP00000320919.3:n.*1669C>G
ENST00000356853.9:c.547C>G	ENSP00000349313.5:p.Pro183Ala
ENST00000409720.5:c.547C>G	ENSP00000387290.1:p.Pro183Ala
ENST00000418099.5:c.547C>G	ENSP00000408966.1:p.Pro183Ala
ENST00000426304.5:c.307C>G	ENSP00000394896.1:p.Pro103Ala
ENST00000450447.1:c.*234C>G	ENSP00000408421.1:n.*234C>G
ENST00000457600.2:c.547C>G	ENSP00000407201.1:p.Pro183Ala
ENST00000498327.5:n.2735C>G
NM_024782.2:c.547C>G , LRG_90t1:c.547C>G	NP_079058.1:p.Pro183Ala
NM_001377498.1:c.547C>G	NP_001364427.1:p.Pro183Ala
NM_001377499.1:c.547C>G	NP_001364428.1:p.Pro183Ala
NM_024782.3:c.547C>G MANE Select	NP_079058.1:p.Pro183Ala
NR_165304.1:n.643C>G