Canonical Allele Identifier: CA399632041
Community Standard Title: NM_003632.3(CNTNAP1):c.69C>G (p.Tyr23Ter)
Gene: CNTNAP1 HGNC NCBI
CCR10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42683822C>G , CM000679.2:g.42683822C>G GRCh38
NC_000017.10:g.40835840C>G , CM000679.1:g.40835840C>G GRCh37
NC_000017.9:g.38089366C>G NCBI36
NG_042091.1:g.6209C>G

Transcript Alleles

HGVS Amino-acid Change
NM_003632.3:c.69C>G (CNTNAP1) MANE Select NP_003623.1:p.Tyr23Ter
ENST00000264638.9:c.69C>G (CNTNAP1) MANE Select ENSP00000264638.3:p.Tyr23Ter
NM_003632.2:c.69C>G (CNTNAP1) NP_003623.1:p.Tyr23Ter
ENST00000264638.8:c.69C>G (CNTNAP1) ENSP00000264638.3:p.Tyr23Ter
ENST00000591568.1:c.-649G>C (CCR10) ENSP00000467331.1:n.-649G>C
ENST00000591662.1:c.69C>G (CNTNAP1) ENSP00000466571.1:p.Tyr23Ter
XM_005257748.3:c.-160C>G (CNTNAP1) XP_005257805.1:n.-160C>G
XM_005257748.4:c.-160C>G (CNTNAP1) XP_005257805.1:n.-160C>G
XM_017025238.1:c.69C>G (CNTNAP1) XP_016880727.1:p.Tyr23Ter
XM_024451011.1:c.69C>G (CNTNAP1) XP_024306779.1:p.Tyr23Ter