Canonical Allele Identifier: CA1786067958
Gene: PENK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56445416G>T , CM000670.2:g.56445416G>T GRCh38
NC_000008.10:g.57357975G>T , CM000670.1:g.57357975G>T GRCh37
NC_000008.9:g.57520529G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000451791.7:c.138+400C>A MANE Select ENSP00000400894.2:n.138+400C>A
ENST00000314922.3:c.138+400C>A ENSP00000324248.3:n.138+400C>A
ENST00000451791.6:c.138+400C>A ENSP00000400894.2:n.138+400C>A
ENST00000517415.1:c.129+400C>A ENSP00000430268.1:n.129+400C>A
ENST00000518770.1:c.*259C>A ENSP00000430592.1:n.*259C>A
ENST00000518974.5:c.138+400C>A ENSP00000428012.1:n.138+400C>A
ENST00000523051.5:c.138+400C>A ENSP00000429326.1:n.138+400C>A
ENST00000523274.1:n.60+173C>A
NM_001135690.1:c.138+400C>A NP_001129162.1:n.138+400C>A
NM_001135690.2:c.138+400C>A NP_001129162.1:n.138+400C>A
NM_006211.3:c.138+400C>A NP_006202.1:n.138+400C>A
NM_001135690.3:c.138+400C>A MANE Select NP_001129162.1:n.138+400C>A