Canonical Allele Identifier: CA8581722
Gene: CNTNAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 522842
dbSNP Id: rs779027563

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42687838G>C , CM000679.2:g.42687838G>C GRCh38
NC_000017.10:g.40839856G>C , CM000679.1:g.40839856G>C GRCh37
NC_000017.9:g.38093382G>C NCBI36
NG_042091.1:g.10225G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000264638.9:c.1163G>C MANE Select ENSP00000264638.3:p.Arg388Pro
ENST00000264638.8:c.1163G>C ENSP00000264638.3:p.Arg388Pro
ENST00000586801.1:n.578G>C
ENST00000591662.1:c.1163G>C ENSP00000466571.1:p.Arg388Pro
NM_003632.2:c.1163G>C NP_003623.1:p.Arg388Pro
XM_005257748.3:c.935G>C XP_005257805.1:p.Arg312Pro
XM_005257748.4:c.935G>C XP_005257805.1:p.Arg312Pro
XM_017025238.1:c.1163G>C XP_016880727.1:p.Arg388Pro
XM_024451011.1:c.1163G>C XP_024306779.1:p.Arg388Pro
NM_003632.3:c.1163G>C MANE Select NP_003623.1:p.Arg388Pro