Canonical Allele Identifier: CA2318614259
Community Standard Title: NM_001143986.2(TLE6):c.1529C= (p.Ser510=)
Gene: TLE6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.2993574C= , CM000681.2:g.2993574C= GRCh38
NC_000019.9:g.2993572C= , CM000681.1:g.2993572C= GRCh37
NC_000019.8:g.2944572C= NCBI36
NG_051563.1:g.21160C=

Transcript Alleles

HGVS Amino-acid Change
NM_001143986.2:c.1529C= MANE Select NP_001137458.1:p.Ser510=
ENST00000246112.9:c.1529C= MANE Select ENSP00000246112.3:p.Ser510=
NM_001143986.1:c.1529C= NP_001137458.1:p.Ser510=
NM_024760.2:c.1160C= NP_079036.1:p.Ser387=
NM_024760.3:c.1160C= NP_079036.1:p.Ser387=
ENST00000246112.8:c.1529C= ENSP00000246112.3:p.Ser510=
ENST00000452088.5:c.1160C= ENSP00000406893.1:p.Ser387=
ENST00000497878.5:n.1222C=
ENST00000617937.4:c.1158C= ENSP00000483606.2:p.Leu386=
XM_005259645.2:c.1529C= XP_005259702.1:p.Ser510=
XM_011528300.1:c.1529C= XP_011526602.1:p.Ser510=
XM_011528300.2:c.1529C= XP_011526602.1:p.Ser510=
XM_011528301.1:c.1160C= XP_011526603.1:p.Ser387=
XM_011528301.2:c.1160C= XP_011526603.1:p.Ser387=
XM_011528302.1:c.1160C= XP_011526604.1:p.Ser387=
XM_011528303.1:c.1160C= XP_011526605.1:p.Ser387=
XM_011528304.1:c.1160C= XP_011526606.1:p.Ser387=
XM_011528305.1:c.1010C= XP_011526607.1:p.Ser337=
XM_011528306.1:c.1010C= XP_011526608.1:p.Ser337=
XM_011528307.1:c.1010C= XP_011526609.1:p.Ser337=
XM_024451722.1:c.1160C= XP_024307490.1:p.Ser387=
XM_024451723.1:c.1160C= XP_024307491.1:p.Ser387=
XM_024451724.1:c.1010C= XP_024307492.1:p.Ser337=