Canonical Allele Identifier: CA177703996

Gene: PENK

Linked Data

• dbSNP Id: rs938229506
• gnomAD v2: 8-57357891-A-T
• gnomAD v3: 8-56445332-A-T
• gnomAD v4: 8-56445332-A-T
• MyVariant Identifiers: chr8:g.57357891A>T (hg19) ; chr8:g.56445332A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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