Canonical Allele Identifier: CA384587644

Gene: CNTN1

Linked Data

• dbSNP Id: rs138121813
• MyVariant Identifiers: chr12:g.41419072G>C (hg19) ; chr12:g.41025270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.41025270G>C , CM000674.2:g.41025270G>C	GRCh38
NC_000012.11:g.41419072G>C , CM000674.1:g.41419072G>C	GRCh37
NC_000012.10:g.39705339G>C	NCBI36
NG_012058.2:g.337715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551295.7:c.2644G>C MANE Select	ENSP00000447006.1:p.Gly882Arg
ENST00000347616.5:c.2644G>C	ENSP00000325660.3:p.Gly882Arg
ENST00000348761.2:c.2611G>C	ENSP00000261160.3:p.Gly871Arg
ENST00000550305.1:n.603G>C
ENST00000551295.6:c.2644G>C	ENSP00000447006.1:p.Gly882Arg
NM_001843.3:c.2644G>C	NP_001834.2:p.Gly882Arg
NM_175038.2:c.2611G>C	NP_778203.1:p.Gly871Arg
XM_005268651.1:c.2644G>C	XP_005268708.1:p.Gly882Arg
XM_006719241.1:c.2644G>C	XP_006719304.1:p.Gly882Arg
XM_011537926.1:c.2644G>C	XP_011536228.1:p.Gly882Arg
XM_011537927.1:c.2644G>C	XP_011536229.1:p.Gly882Arg
XM_005268651.2:c.2644G>C	XP_005268708.1:p.Gly882Arg
XM_006719241.2:c.2644G>C	XP_006719304.1:p.Gly882Arg
XM_011537926.3:c.2644G>C	XP_011536228.1:p.Gly882Arg
XM_011537927.2:c.2644G>C	XP_011536229.1:p.Gly882Arg
XR_002957288.1:n.2866G>C
XR_002957289.1:n.2987G>C
XR_002957290.1:n.3234G>C
XR_002957291.1:n.2858G>C
NM_001843.4:c.2644G>C MANE Select	NP_001834.2:p.Gly882Arg