Canonical Allele Identifier: CA392973043
Gene: CLN6 HGNC NCBI

Linked Data

ClinVar Variation Id: 759132
ClinVar RCV Id: RCV001482836
dbSNP Id: rs1595817219

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.68209750G>A , CM000677.2:g.68209750G>A GRCh38
NC_000015.9:g.68502088G>A , CM000677.1:g.68502088G>A GRCh37
NC_000015.8:g.66289142G>A NCBI36
NG_008764.2:g.52462C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249806.11:c.552C>T MANE Select ENSP00000249806.5:p.Pro184=
ENST00000562767.2:c.84-12122C>T ENSP00000456336.1:n.84-12122C>T
ENST00000563917.2:n.394C>T
ENST00000565471.6:c.93C>T ENSP00000457384.1:p.Pro31=
ENST00000635747.1:c.*455C>T ENSP00000490627.1:n.*455C>T
ENST00000636212.1:c.*222C>T ENSP00000489851.1:n.*222C>T
ENST00000636314.1:c.248C>T ENSP00000490295.1:p.Pro83Leu
ENST00000636674.1:n.1654C>T
ENST00000636964.1:n.2080C>T
ENST00000637054.1:c.198+8786C>T ENSP00000490807.1:n.198+8786C>T
ENST00000637223.1:c.*266C>T ENSP00000490010.1:n.*266C>T
ENST00000637329.1:c.521C>T
ENST00000637450.1:c.*206C>T ENSP00000490204.1:n.*206C>T
ENST00000637494.1:c.264C>T ENSP00000490057.1:p.Pro88=
ENST00000637667.1:c.453C>T ENSP00000489843.1:p.Pro151=
ENST00000637823.1:c.377C>T
ENST00000637888.1:c.198+8786C>T ENSP00000490546.1:n.198+8786C>T
ENST00000638076.1:c.*155C>T ENSP00000490373.1:n.*155C>T
ENST00000638144.1:n.195C>T
ENST00000646164.1:c.38+8786C>T
ENST00000249806.9:c.552C>T ENSP00000249806.5:p.Pro184=
ENST00000538696.5:c.648C>T ENSP00000445770.1:p.Pro216=
ENST00000562767.1:c.84-12122C>T ENSP00000456336.1:n.84-12122C>T
ENST00000563917.1:n.452C>T
ENST00000564752.1:c.578C>T ENSP00000457822.1:p.Pro193Leu
ENST00000565471.5:c.93C>T ENSP00000457384.1:p.Pro31=
ENST00000566347.5:c.363C>T ENSP00000457783.1:p.Pro121=
ENST00000567060.5:c.298-30C>T ENSP00000454818.1:n.298-30C>T
NM_017882.2:c.552C>T NP_060352.1:p.Pro184=
XR_931861.1:n.774C>T
NM_017882.3:c.552C>T MANE Select NP_060352.1:p.Pro184=