Canonical Allele Identifier: CA1786067957
Gene: PENK HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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