Canonical Allele Identifier: CA392972862

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502020G>T (hg19) ; chr15:g.68209682G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209682G>T , CM000677.2:g.68209682G>T	GRCh38
NC_000015.9:g.68502020G>T , CM000677.1:g.68502020G>T	GRCh37
NC_000015.8:g.66289074G>T	NCBI36
NG_008764.2:g.52530C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.620C>A MANE Select	ENSP00000249806.5:p.Pro207Gln
ENST00000562767.2:c.84-12054C>A	ENSP00000456336.1:n.84-12054C>A
ENST00000563917.2:n.462C>A
ENST00000565471.6:c.161C>A	ENSP00000457384.1:p.Pro54Gln
ENST00000635747.1:c.*523C>A	ENSP00000490627.1:n.*523C>A
ENST00000636212.1:c.*290C>A	ENSP00000489851.1:n.*290C>A
ENST00000636314.1:c.*4C>A	ENSP00000490295.1:n.*4C>A
ENST00000636674.1:n.1722C>A
ENST00000636964.1:n.2148C>A
ENST00000637054.1:c.198+8854C>A	ENSP00000490807.1:n.198+8854C>A
ENST00000637329.1:c.589C>A
ENST00000637450.1:c.*274C>A	ENSP00000490204.1:n.*274C>A
ENST00000637494.1:c.332C>A	ENSP00000490057.1:p.Pro111Gln
ENST00000637667.1:c.521C>A	ENSP00000489843.1:p.Pro174Gln
ENST00000637823.1:c.445C>A
ENST00000637888.1:c.198+8854C>A	ENSP00000490546.1:n.198+8854C>A
ENST00000638076.1:c.*223C>A	ENSP00000490373.1:n.*223C>A
ENST00000638144.1:n.263C>A
ENST00000646164.1:c.38+8854C>A
ENST00000249806.9:c.620C>A	ENSP00000249806.5:p.Pro207Gln
ENST00000538696.5:c.716C>A	ENSP00000445770.1:p.Pro239Gln
ENST00000562767.1:c.84-12054C>A	ENSP00000456336.1:n.84-12054C>A
ENST00000563917.1:n.520C>A
ENST00000564752.1:c.*4C>A	ENSP00000457822.1:n.*4C>A
ENST00000565471.5:c.161C>A	ENSP00000457384.1:p.Pro54Gln
ENST00000566347.5:c.431C>A	ENSP00000457783.1:p.Pro144Gln
ENST00000567060.5:c.*18C>A	ENSP00000454818.1:n.*18C>A
NM_017882.2:c.620C>A	NP_060352.1:p.Pro207Gln
XR_931861.1:n.842C>A
NM_017882.3:c.620C>A MANE Select	NP_060352.1:p.Pro207Gln