Canonical Allele Identifier: CA384586501

Gene: CNTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.41014260G>A , CM000674.2:g.41014260G>A	GRCh38
NC_000012.11:g.41408062G>A , CM000674.1:g.41408062G>A	GRCh37
NC_000012.10:g.39694329G>A	NCBI36
NG_012058.2:g.326705G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001843.4:c.2146G>A MANE Select	NP_001834.2:p.Gly716Arg
ENST00000551295.7:c.2146G>A MANE Select	ENSP00000447006.1:p.Gly716Arg
NM_001843.3:c.2146G>A	NP_001834.2:p.Gly716Arg
NM_175038.2:c.2113G>A	NP_778203.1:p.Gly705Arg
ENST00000347616.5:c.2146G>A	ENSP00000325660.3:p.Gly716Arg
ENST00000348761.2:c.2113G>A	ENSP00000261160.3:p.Gly705Arg
ENST00000550305.1:n.105G>A
ENST00000551295.6:c.2146G>A	ENSP00000447006.1:p.Gly716Arg
XM_005268651.1:c.2146G>A	XP_005268708.1:p.Gly716Arg
XM_005268651.2:c.2146G>A	XP_005268708.1:p.Gly716Arg
XM_006719241.1:c.2146G>A	XP_006719304.1:p.Gly716Arg
XM_006719241.2:c.2146G>A	XP_006719304.1:p.Gly716Arg
XM_011537926.1:c.2146G>A	XP_011536228.1:p.Gly716Arg
XM_011537926.3:c.2146G>A	XP_011536228.1:p.Gly716Arg
XM_011537927.1:c.2146G>A	XP_011536229.1:p.Gly716Arg
XM_011537927.2:c.2146G>A	XP_011536229.1:p.Gly716Arg
XR_001749089.1:n.695+207C>T
XR_002957288.1:n.2368G>A
XR_002957289.1:n.2489G>A
XR_002957290.1:n.2736G>A
XR_002957291.1:n.2360G>A