Canonical Allele Identifier: CA2565403493

Gene: PENK

Linked Data

• dbSNP Id: rs2128941710
• gnomAD v3: 8-56445316-G-T
• gnomAD v4: 8-56445316-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.56445316G>T , CM000670.2:g.56445316G>T	GRCh38
NC_000008.10:g.57357875G>T , CM000670.1:g.57357875G>T	GRCh37
NC_000008.9:g.57520429G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000451791.7:c.138+500C>A MANE Select	ENSP00000400894.2:n.138+500C>A
ENST00000314922.3:c.138+500C>A	ENSP00000324248.3:n.138+500C>A
ENST00000451791.6:c.138+500C>A	ENSP00000400894.2:n.138+500C>A
ENST00000517415.1:c.129+500C>A	ENSP00000430268.1:n.129+500C>A
ENST00000518770.1:c.*359C>A	ENSP00000430592.1:n.*359C>A
ENST00000518974.5:c.138+500C>A	ENSP00000428012.1:n.138+500C>A
ENST00000523051.5:c.138+500C>A	ENSP00000429326.1:n.138+500C>A
ENST00000523274.1:n.60+273C>A
NM_001135690.1:c.138+500C>A	NP_001129162.1:n.138+500C>A
NM_001135690.2:c.138+500C>A	NP_001129162.1:n.138+500C>A
NM_006211.3:c.138+500C>A	NP_006202.1:n.138+500C>A
NM_001135690.3:c.138+500C>A MANE Select	NP_001129162.1:n.138+500C>A