Canonical Allele Identifier: CA2031242423
Gene: CNTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40853940G>C , CM000674.2:g.40853940G>C GRCh38
NC_000012.11:g.41247742G>C , CM000674.1:g.41247742G>C GRCh37
NC_000012.10:g.39534009G>C NCBI36
NG_012058.2:g.166385G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000547849.6:c.-77+25639G>C ENSP00000448653.1:n.-77+25639G>C
ENST00000551295.7:c.-76-54417G>C MANE Select ENSP00000447006.1:n.-76-54417G>C
ENST00000547702.5:c.-76-54417G>C ENSP00000448004.1:n.-76-54417G>C
ENST00000547849.5:c.-77+25639G>C ENSP00000448653.1:n.-77+25639G>C
ENST00000548005.5:c.-76-54417G>C ENSP00000447862.1:n.-76-54417G>C
ENST00000551295.6:c.-76-54417G>C ENSP00000447006.1:n.-76-54417G>C
ENST00000551424.5:c.-236-42010G>C ENSP00000450412.1:n.-236-42010G>C
ENST00000552248.5:c.-76-54417G>C ENSP00000447860.1:n.-76-54417G>C
ENST00000552913.5:c.-237+25639G>C ENSP00000449706.1:n.-237+25639G>C
NM_001256063.1:c.-76-54417G>C NP_001242992.1:n.-76-54417G>C
NM_001256064.1:c.-77+25639G>C NP_001242993.1:n.-77+25639G>C
NM_001843.3:c.-76-54417G>C NP_001834.2:n.-76-54417G>C
XM_005268651.1:c.-77+25639G>C XP_005268708.1:n.-77+25639G>C
XM_011537926.1:c.-76-54417G>C XP_011536228.1:n.-76-54417G>C
XM_005268651.2:c.-77+25639G>C XP_005268708.1:n.-77+25639G>C
XM_011537926.3:c.-76-54417G>C XP_011536228.1:n.-76-54417G>C
XM_024448843.1:c.-76-54417G>C XP_024304611.1:n.-76-54417G>C
XR_002957288.1:n.147-54417G>C
XR_002957289.1:n.268-54417G>C
XR_002957290.1:n.514+25639G>C
NM_001843.4:c.-76-54417G>C MANE Select NP_001834.2:n.-76-54417G>C
NM_001256063.2:c.-76-54417G>C NP_001242992.1:n.-76-54417G>C
NM_001256064.2:c.-77+25639G>C NP_001242993.1:n.-77+25639G>C