Canonical Allele Identifier: CA384421508

Gene: CNTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40910107T>C , CM000674.2:g.40910107T>C	GRCh38
NC_000012.11:g.41303909T>C , CM000674.1:g.41303909T>C	GRCh37
NC_000012.10:g.39590176T>C	NCBI36
NG_012058.2:g.222552T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001843.4:c.94+2T>C MANE Select	NP_001834.2:n.94+2T>C
ENST00000551295.7:c.94+2T>C MANE Select	ENSP00000447006.1:n.94+2T>C
NM_001256063.1:c.94+2T>C	NP_001242992.1:n.94+2T>C
NM_001256063.2:c.94+2T>C	NP_001242992.1:n.94+2T>C
NM_001256064.1:c.94+2T>C	NP_001242993.1:n.94+2T>C
NM_001256064.2:c.94+2T>C	NP_001242993.1:n.94+2T>C
NM_001843.3:c.94+2T>C	NP_001834.2:n.94+2T>C
NM_175038.2:c.61+1614T>C	NP_778203.1:n.61+1614T>C
ENST00000347616.5:c.94+2T>C	ENSP00000325660.3:n.94+2T>C
ENST00000348761.2:c.61+1614T>C	ENSP00000261160.3:n.61+1614T>C
ENST00000547702.5:c.94+2T>C	ENSP00000448004.1:n.94+2T>C
ENST00000547849.5:c.94+2T>C	ENSP00000448653.1:n.94+2T>C
ENST00000547849.6:c.94+2T>C	ENSP00000448653.1:n.94+2T>C
ENST00000548005.5:c.94+2T>C	ENSP00000447862.1:n.94+2T>C
ENST00000551295.6:c.94+2T>C	ENSP00000447006.1:n.94+2T>C
ENST00000551424.5:c.94+2T>C	ENSP00000450412.1:n.94+2T>C
ENST00000552248.5:c.94+2T>C	ENSP00000447860.1:n.94+2T>C
ENST00000552913.5:c.94+2T>C	ENSP00000449706.1:n.94+2T>C
XM_005268651.1:c.94+2T>C	XP_005268708.1:n.94+2T>C
XM_005268651.2:c.94+2T>C	XP_005268708.1:n.94+2T>C
XM_006719241.1:c.94+2T>C	XP_006719304.1:n.94+2T>C
XM_006719241.2:c.94+2T>C	XP_006719304.1:n.94+2T>C
XM_011537926.1:c.94+2T>C	XP_011536228.1:n.94+2T>C
XM_011537926.3:c.94+2T>C	XP_011536228.1:n.94+2T>C
XM_011537927.1:c.94+2T>C	XP_011536229.1:n.94+2T>C
XM_011537927.2:c.94+2T>C	XP_011536229.1:n.94+2T>C
XM_017018826.2:c.94+2T>C	XP_016874315.1:n.94+2T>C
XM_017018827.2:c.94+2T>C	XP_016874316.1:n.94+2T>C
XM_024448843.1:c.94+2T>C	XP_024304611.1:n.94+2T>C
XR_002957288.1:n.316+2T>C
XR_002957289.1:n.437+2T>C
XR_002957290.1:n.684+2T>C
XR_002957291.1:n.308+2T>C