Canonical Allele Identifier: CA1786067922
Gene: PENK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56445341C= , CM000670.2:g.56445341C= GRCh38
NC_000008.10:g.57357900C= , CM000670.1:g.57357900C= GRCh37
NC_000008.9:g.57520454C= NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000451791.7:c.138+475G= MANE Select ENSP00000400894.2:n.138+475G=
ENST00000314922.3:c.138+475G= ENSP00000324248.3:n.138+475G=
ENST00000451791.6:c.138+475G= ENSP00000400894.2:n.138+475G=
ENST00000517415.1:c.129+475G= ENSP00000430268.1:n.129+475G=
ENST00000518770.1:c.*334G= ENSP00000430592.1:n.*334G=
ENST00000518974.5:c.138+475G= ENSP00000428012.1:n.138+475G=
ENST00000523051.5:c.138+475G= ENSP00000429326.1:n.138+475G=
ENST00000523274.1:n.60+248G=
NM_001135690.1:c.138+475G= NP_001129162.1:n.138+475G=
NM_001135690.2:c.138+475G= NP_001129162.1:n.138+475G=
NM_006211.3:c.138+475G= NP_006202.1:n.138+475G=
NM_001135690.3:c.138+475G= MANE Select NP_001129162.1:n.138+475G=