Canonical Allele Identifier: CA384588280

Gene: CNTN1

Linked Data

• ClinVar Variation Id: 537192
• ClinVar RCV Id: RCV000645985
• dbSNP Id: rs1555201480
• MyVariant Identifiers: chr12:g.41422964G>T (hg19) ; chr12:g.41029162G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.41029162G>T , CM000674.2:g.41029162G>T	GRCh38
NC_000012.11:g.41422964G>T , CM000674.1:g.41422964G>T	GRCh37
NC_000012.10:g.39709231G>T	NCBI36
NG_012058.2:g.341607G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551295.7:c.2923G>T MANE Select	ENSP00000447006.1:p.Glu975Ter
ENST00000347616.5:c.2923G>T	ENSP00000325660.3:p.Glu975Ter
ENST00000348761.2:c.2890G>T	ENSP00000261160.3:p.Glu964Ter
ENST00000548481.1:c.49G>T	ENSP00000449517.1:p.Glu17Ter
ENST00000551295.6:c.2923G>T	ENSP00000447006.1:p.Glu975Ter
NM_001843.3:c.2923G>T	NP_001834.2:p.Glu975Ter
NM_175038.2:c.2890G>T	NP_778203.1:p.Glu964Ter
XM_005268651.1:c.2923G>T	XP_005268708.1:p.Glu975Ter
XM_006719241.1:c.2923G>T	XP_006719304.1:p.Glu975Ter
XM_011537926.1:c.2923G>T	XP_011536228.1:p.Glu975Ter
XM_011537927.1:c.2923G>T	XP_011536229.1:p.Glu975Ter
XM_005268651.2:c.2923G>T	XP_005268708.1:p.Glu975Ter
XM_006719241.2:c.2923G>T	XP_006719304.1:p.Glu975Ter
XM_011537926.3:c.2923G>T	XP_011536228.1:p.Glu975Ter
XM_011537927.2:c.2923G>T	XP_011536229.1:p.Glu975Ter
XR_002957288.1:n.3145G>T
XR_002957289.1:n.3266G>T
XR_002957290.1:n.3513G>T
XR_002957291.1:n.3137G>T
NM_001843.4:c.2923G>T MANE Select	NP_001834.2:p.Glu975Ter