Canonical Allele Identifier: CA2260598567
Gene: CNTNAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687867C= , CM000679.2:g.42687867C= GRCh38
NC_000017.10:g.40839885C= , CM000679.1:g.40839885C= GRCh37
NC_000017.9:g.38093411C= NCBI36
NG_042091.1:g.10254C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1192C= MANE Select ENSP00000264638.3:p.Leu398=
ENST00000264638.8:c.1192C= ENSP00000264638.3:p.Leu398=
ENST00000586801.1:n.607C=
ENST00000591662.1:c.1192C= ENSP00000466571.1:p.Leu398=
NM_003632.2:c.1192C= NP_003623.1:p.Leu398=
XM_005257748.3:c.964C= XP_005257805.1:p.Leu322=
XM_005257748.4:c.964C= XP_005257805.1:p.Leu322=
XM_017025238.1:c.1192C= XP_016880727.1:p.Leu398=
XM_024451011.1:c.1192C= XP_024306779.1:p.Leu398=
NM_003632.3:c.1192C= MANE Select NP_003623.1:p.Leu398=