Canonical Allele Identifier: CA12763145

Gene: PENK

Linked Data

• dbSNP Id: rs2576573
• gnomAD v2: 8-57357975-G-A
• gnomAD v3: 8-56445416-G-A
• gnomAD v4: 8-56445416-G-A
• MyVariant Identifiers: chr8:g.57357975G>A (hg19) ; chr8:g.56445416G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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