Canonical Allele Identifier: CA399637815
Gene: CNTNAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687807C>G , CM000679.2:g.42687807C>G GRCh38
NC_000017.10:g.40839825C>G , CM000679.1:g.40839825C>G GRCh37
NC_000017.9:g.38093351C>G NCBI36
NG_042091.1:g.10194C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264638.9:c.1132C>G MANE Select ENSP00000264638.3:p.Pro378Ala
ENST00000264638.8:c.1132C>G ENSP00000264638.3:p.Pro378Ala
ENST00000586801.1:n.547C>G
ENST00000591662.1:c.1132C>G ENSP00000466571.1:p.Pro378Ala
NM_003632.2:c.1132C>G NP_003623.1:p.Pro378Ala
XM_005257748.3:c.904C>G XP_005257805.1:p.Pro302Ala
XM_005257748.4:c.904C>G XP_005257805.1:p.Pro302Ala
XM_017025238.1:c.1132C>G XP_016880727.1:p.Pro378Ala
XM_024451011.1:c.1132C>G XP_024306779.1:p.Pro378Ala
NM_003632.3:c.1132C>G MANE Select NP_003623.1:p.Pro378Ala