Canonical Allele Identifier: CA2687344013

Gene: PENK

Linked Data

• gnomAD v4: 8-56445332-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56445332A>C , CM000670.2:g.56445332A>C	GRCh38
NC_000008.10:g.57357891A>C , CM000670.1:g.57357891A>C	GRCh37
NC_000008.9:g.57520445A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000451791.7:c.138+484T>G MANE Select	ENSP00000400894.2:n.138+484T>G
ENST00000314922.3:c.138+484T>G	ENSP00000324248.3:n.138+484T>G
ENST00000451791.6:c.138+484T>G	ENSP00000400894.2:n.138+484T>G
ENST00000517415.1:c.129+484T>G	ENSP00000430268.1:n.129+484T>G
ENST00000518770.1:c.*343T>G	ENSP00000430592.1:n.*343T>G
ENST00000518974.5:c.138+484T>G	ENSP00000428012.1:n.138+484T>G
ENST00000523051.5:c.138+484T>G	ENSP00000429326.1:n.138+484T>G
ENST00000523274.1:n.60+257T>G
NM_001135690.1:c.138+484T>G	NP_001129162.1:n.138+484T>G
NM_001135690.2:c.138+484T>G	NP_001129162.1:n.138+484T>G
NM_006211.3:c.138+484T>G	NP_006202.1:n.138+484T>G
NM_001135690.3:c.138+484T>G MANE Select	NP_001129162.1:n.138+484T>G