Canonical Allele Identifier: CA399637806

Gene: CNTNAP1

Linked Data

• MyVariant Identifiers: chr17:g.40839823T>A (hg19) ; chr17:g.42687805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687805T>A , CM000679.2:g.42687805T>A	GRCh38
NC_000017.10:g.40839823T>A , CM000679.1:g.40839823T>A	GRCh37
NC_000017.9:g.38093349T>A	NCBI36
NG_042091.1:g.10192T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1130T>A MANE Select	ENSP00000264638.3:p.Phe377Tyr
ENST00000264638.8:c.1130T>A	ENSP00000264638.3:p.Phe377Tyr
ENST00000586801.1:n.545T>A
ENST00000591662.1:c.1130T>A	ENSP00000466571.1:p.Phe377Tyr
NM_003632.2:c.1130T>A	NP_003623.1:p.Phe377Tyr
XM_005257748.3:c.902T>A	XP_005257805.1:p.Phe301Tyr
XM_005257748.4:c.902T>A	XP_005257805.1:p.Phe301Tyr
XM_017025238.1:c.1130T>A	XP_016880727.1:p.Phe377Tyr
XM_024451011.1:c.1130T>A	XP_024306779.1:p.Phe377Tyr
NM_003632.3:c.1130T>A MANE Select	NP_003623.1:p.Phe377Tyr