Canonical Allele Identifier: CA396194290

Gene: CDH5

Linked Data

• MyVariant Identifiers: chr16:g.66432426T>C (hg19) ; chr16:g.66398523T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.66398523T>C , CM000678.2:g.66398523T>C	GRCh38
NC_000016.9:g.66432426T>C , CM000678.1:g.66432426T>C	GRCh37
NC_000016.8:g.64989927T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000341529.8:c.1553T>C MANE Select	ENSP00000344115.3:p.Leu518Ser
ENST00000649567.1:c.1553T>C	ENSP00000497290.1:p.Leu518Ser
ENST00000341529.7:c.1553T>C	ENSP00000344115.3:p.Leu518Ser
ENST00000539168.1:c.-131T>C	ENSP00000461880.1:n.-131T>C
ENST00000565334.5:c.*676T>C	ENSP00000456028.1:n.*676T>C
ENST00000614547.4:c.1208T>C	ENSP00000479381.1:p.Leu403Ser
NM_001795.3:c.1553T>C	NP_001786.2:p.Leu518Ser
XM_011522801.1:c.1580T>C	XP_011521103.1:p.Leu527Ser
NM_001795.4:c.1553T>C	NP_001786.2:p.Leu518Ser
XM_011522801.2:c.1580T>C	XP_011521103.1:p.Leu527Ser
XM_024450133.1:c.1580T>C	XP_024305901.1:p.Leu527Ser
NM_001795.5:c.1553T>C MANE Select	NP_001786.2:p.Leu518Ser