Canonical Allele Identifier: CA396194297

Gene: CDH5

Linked Data

• COSMIC: COSM94058
• MyVariant Identifiers: chr16:g.66432427G>T (hg19) ; chr16:g.66398524G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398524G>T , CM000678.2:g.66398524G>T	GRCh38
NC_000016.9:g.66432427G>T , CM000678.1:g.66432427G>T	GRCh37
NC_000016.8:g.64989928G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1554G>T MANE Select	ENSP00000344115.3:p.Leu518Phe
ENST00000649567.1:c.1554G>T	ENSP00000497290.1:p.Leu518Phe
ENST00000341529.7:c.1554G>T	ENSP00000344115.3:p.Leu518Phe
ENST00000539168.1:c.-130G>T	ENSP00000461880.1:n.-130G>T
ENST00000565334.5:c.*677G>T	ENSP00000456028.1:n.*677G>T
ENST00000614547.4:c.1209G>T	ENSP00000479381.1:p.Leu403Phe
NM_001795.3:c.1554G>T	NP_001786.2:p.Leu518Phe
XM_011522801.1:c.1581G>T	XP_011521103.1:p.Leu527Phe
NM_001795.4:c.1554G>T	NP_001786.2:p.Leu518Phe
XM_011522801.2:c.1581G>T	XP_011521103.1:p.Leu527Phe
XM_024450133.1:c.1581G>T	XP_024305901.1:p.Leu527Phe
NM_001795.5:c.1554G>T MANE Select	NP_001786.2:p.Leu518Phe