Canonical Allele Identifier: CA6517108

Gene: CNTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.41016823C>T , CM000674.2:g.41016823C>T	GRCh38
NC_000012.11:g.41410625C>T , CM000674.1:g.41410625C>T	GRCh37
NC_000012.10:g.39696892C>T	NCBI36
NG_012058.2:g.329268C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001843.4:c.2326C>T MANE Select	NP_001834.2:p.Pro776Ser
ENST00000551295.7:c.2326C>T MANE Select	ENSP00000447006.1:p.Pro776Ser
NM_001843.3:c.2326C>T	NP_001834.2:p.Pro776Ser
NM_175038.2:c.2293C>T	NP_778203.1:p.Pro765Ser
ENST00000347616.5:c.2326C>T	ENSP00000325660.3:p.Pro776Ser
ENST00000348761.2:c.2293C>T	ENSP00000261160.3:p.Pro765Ser
ENST00000550305.1:n.285C>T
ENST00000551295.6:c.2326C>T	ENSP00000447006.1:p.Pro776Ser
XM_005268651.1:c.2326C>T	XP_005268708.1:p.Pro776Ser
XM_005268651.2:c.2326C>T	XP_005268708.1:p.Pro776Ser
XM_006719241.1:c.2326C>T	XP_006719304.1:p.Pro776Ser
XM_006719241.2:c.2326C>T	XP_006719304.1:p.Pro776Ser
XM_011537926.1:c.2326C>T	XP_011536228.1:p.Pro776Ser
XM_011537926.3:c.2326C>T	XP_011536228.1:p.Pro776Ser
XM_011537927.1:c.2326C>T	XP_011536229.1:p.Pro776Ser
XM_011537927.2:c.2326C>T	XP_011536229.1:p.Pro776Ser
XR_002957288.1:n.2548C>T
XR_002957289.1:n.2669C>T
XR_002957290.1:n.2916C>T
XR_002957291.1:n.2540C>T