Canonical Allele Identifier: CA2780431687
Gene: PENK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56445322A>T , CM000670.2:g.56445322A>T GRCh38
NC_000008.10:g.57357881A>T , CM000670.1:g.57357881A>T GRCh37
NC_000008.9:g.57520435A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000451791.7:c.138+494T>A MANE Select ENSP00000400894.2:n.138+494T>A
ENST00000314922.3:c.138+494T>A ENSP00000324248.3:n.138+494T>A
ENST00000451791.6:c.138+494T>A ENSP00000400894.2:n.138+494T>A
ENST00000517415.1:c.129+494T>A ENSP00000430268.1:n.129+494T>A
ENST00000518770.1:c.*353T>A ENSP00000430592.1:n.*353T>A
ENST00000518974.5:c.138+494T>A ENSP00000428012.1:n.138+494T>A
ENST00000523051.5:c.138+494T>A ENSP00000429326.1:n.138+494T>A
ENST00000523274.1:n.60+267T>A
NM_001135690.1:c.138+494T>A NP_001129162.1:n.138+494T>A
NM_001135690.2:c.138+494T>A NP_001129162.1:n.138+494T>A
NM_006211.3:c.138+494T>A NP_006202.1:n.138+494T>A
NM_001135690.3:c.138+494T>A MANE Select NP_001129162.1:n.138+494T>A
Search 100 bp 5'
Search 100 bp 3'