Canonical Allele Identifier: CA491099934

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208266G>A , CM000677.2:g.68208266G>A	GRCh38
NC_000015.9:g.68500604G>A , CM000677.1:g.68500604G>A	GRCh37
NC_000015.8:g.66287658G>A	NCBI36
NG_008764.2:g.53946C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.810C>T MANE Select	ENSP00000249806.5:p.Leu270=
ENST00000562767.2:c.84-10638C>T	ENSP00000456336.1:n.84-10638C>T
ENST00000565471.6:c.351C>T	ENSP00000457384.1:p.Leu117=
ENST00000635747.1:c.*713C>T	ENSP00000490627.1:n.*713C>T
ENST00000636212.1:c.*480C>T	ENSP00000489851.1:n.*480C>T
ENST00000636674.1:n.1912C>T
ENST00000636964.1:n.2338C>T
ENST00000637054.1:c.198+10270C>T	ENSP00000490807.1:n.198+10270C>T
ENST00000637329.1:c.779C>T
ENST00000637450.1:c.*464C>T	ENSP00000490204.1:n.*464C>T
ENST00000637494.1:c.522C>T	ENSP00000490057.1:p.Leu174=
ENST00000637667.1:c.711C>T	ENSP00000489843.1:p.Leu237=
ENST00000637823.1:c.635C>T
ENST00000637888.1:c.198+10270C>T	ENSP00000490546.1:n.198+10270C>T
ENST00000638076.1:c.*413C>T	ENSP00000490373.1:n.*413C>T
ENST00000638144.1:n.453C>T
ENST00000646164.1:c.39-8585C>T
ENST00000249806.9:c.810C>T	ENSP00000249806.5:p.Leu270=
ENST00000538696.5:c.906C>T	ENSP00000445770.1:p.Leu302=
ENST00000562767.1:c.84-10638C>T	ENSP00000456336.1:n.84-10638C>T
ENST00000565471.5:c.351C>T	ENSP00000457384.1:p.Leu117=
ENST00000566347.5:c.621C>T	ENSP00000457783.1:p.Leu207=
ENST00000567060.5:c.*208C>T	ENSP00000454818.1:n.*208C>T
NM_017882.2:c.810C>T	NP_060352.1:p.Leu270=
NM_017882.3:c.810C>T MANE Select	NP_060352.1:p.Leu270=