Canonical Allele Identifier: CA6516571

Gene: CNTN1

Linked Data

• ClinVar Variation Id: 423311
• ClinVar RCV Id: RCV000481172 ; RCV001044442
• dbSNP Id: rs142755965
• ExAC: 12:41316108 T / C
• gnomAD v2: 12-41316108-T-C
• gnomAD v3: 12-40922306-T-C
• gnomAD v4: 12-40922306-T-C
• MyVariant Identifiers: chr12:g.41316108T>C (hg19) ; chr12:g.40922306T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40922306T>C , CM000674.2:g.40922306T>C	GRCh38
NC_000012.11:g.41316108T>C , CM000674.1:g.41316108T>C	GRCh37
NC_000012.10:g.39602375T>C	NCBI36
NG_012058.2:g.234751T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547849.6:c.278T>C	ENSP00000448653.1:p.Met93Thr
ENST00000551295.7:c.278T>C MANE Select	ENSP00000447006.1:p.Met93Thr
ENST00000347616.5:c.278T>C	ENSP00000325660.3:p.Met93Thr
ENST00000348761.2:c.245T>C	ENSP00000261160.3:p.Met82Thr
ENST00000547702.5:c.278T>C	ENSP00000448004.1:p.Met93Thr
ENST00000547849.5:c.278T>C	ENSP00000448653.1:p.Met93Thr
ENST00000551295.6:c.278T>C	ENSP00000447006.1:p.Met93Thr
NM_001256063.1:c.278T>C	NP_001242992.1:p.Met93Thr
NM_001256064.1:c.278T>C	NP_001242993.1:p.Met93Thr
NM_001843.3:c.278T>C	NP_001834.2:p.Met93Thr
NM_175038.2:c.245T>C	NP_778203.1:p.Met82Thr
XM_005268651.1:c.278T>C	XP_005268708.1:p.Met93Thr
XM_006719241.1:c.278T>C	XP_006719304.1:p.Met93Thr
XM_011537926.1:c.278T>C	XP_011536228.1:p.Met93Thr
XM_011537927.1:c.278T>C	XP_011536229.1:p.Met93Thr
XM_005268651.2:c.278T>C	XP_005268708.1:p.Met93Thr
XM_006719241.2:c.278T>C	XP_006719304.1:p.Met93Thr
XM_011537926.3:c.278T>C	XP_011536228.1:p.Met93Thr
XM_011537927.2:c.278T>C	XP_011536229.1:p.Met93Thr
XM_017018826.2:c.278T>C	XP_016874315.1:p.Met93Thr
XM_017018827.2:c.278T>C	XP_016874316.1:p.Met93Thr
XM_024448843.1:c.278T>C	XP_024304611.1:p.Met93Thr
XR_002957288.1:n.500T>C
XR_002957289.1:n.621T>C
XR_002957290.1:n.868T>C
XR_002957291.1:n.492T>C
NM_001843.4:c.278T>C MANE Select	NP_001834.2:p.Met93Thr
NM_001256063.2:c.278T>C	NP_001242992.1:p.Met93Thr
NM_001256064.2:c.278T>C	NP_001242993.1:p.Met93Thr