Canonical Allele Identifier: CA384421921
Community Standard Title: NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter)
Gene: CNTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40922296C>T , CM000674.2:g.40922296C>T GRCh38
NC_000012.11:g.41316098C>T , CM000674.1:g.41316098C>T GRCh37
NC_000012.10:g.39602365C>T NCBI36
NG_012058.2:g.234741C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001843.4:c.268C>T MANE Select NP_001834.2:p.Arg90Ter
ENST00000551295.7:c.268C>T MANE Select ENSP00000447006.1:p.Arg90Ter
NM_001256063.1:c.268C>T NP_001242992.1:p.Arg90Ter
NM_001256063.2:c.268C>T NP_001242992.1:p.Arg90Ter
NM_001256064.1:c.268C>T NP_001242993.1:p.Arg90Ter
NM_001256064.2:c.268C>T NP_001242993.1:p.Arg90Ter
NM_001843.3:c.268C>T NP_001834.2:p.Arg90Ter
NM_175038.2:c.235C>T NP_778203.1:p.Arg79Ter
ENST00000347616.5:c.268C>T ENSP00000325660.3:p.Arg90Ter
ENST00000348761.2:c.235C>T ENSP00000261160.3:p.Arg79Ter
ENST00000547702.5:c.268C>T ENSP00000448004.1:p.Arg90Ter
ENST00000547849.5:c.268C>T ENSP00000448653.1:p.Arg90Ter
ENST00000547849.6:c.268C>T ENSP00000448653.1:p.Arg90Ter
ENST00000551295.6:c.268C>T ENSP00000447006.1:p.Arg90Ter
ENST00000552248.5:c.268C>T ENSP00000447860.1:p.Arg90Ter
XM_005268651.1:c.268C>T XP_005268708.1:p.Arg90Ter
XM_005268651.2:c.268C>T XP_005268708.1:p.Arg90Ter
XM_006719241.1:c.268C>T XP_006719304.1:p.Arg90Ter
XM_006719241.2:c.268C>T XP_006719304.1:p.Arg90Ter
XM_011537926.1:c.268C>T XP_011536228.1:p.Arg90Ter
XM_011537926.3:c.268C>T XP_011536228.1:p.Arg90Ter
XM_011537927.1:c.268C>T XP_011536229.1:p.Arg90Ter
XM_011537927.2:c.268C>T XP_011536229.1:p.Arg90Ter
XM_017018826.2:c.268C>T XP_016874315.1:p.Arg90Ter
XM_017018827.2:c.268C>T XP_016874316.1:p.Arg90Ter
XM_024448843.1:c.268C>T XP_024304611.1:p.Arg90Ter
XR_002957288.1:n.490C>T
XR_002957289.1:n.611C>T
XR_002957290.1:n.858C>T
XR_002957291.1:n.482C>T