Canonical Allele Identifier: CA392972253

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500716A>G (hg19) ; chr15:g.68208378A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208378A>G , CM000677.2:g.68208378A>G	GRCh38
NC_000015.9:g.68500716A>G , CM000677.1:g.68500716A>G	GRCh37
NC_000015.8:g.66287770A>G	NCBI36
NG_008764.2:g.53834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.698T>C MANE Select	ENSP00000249806.5:p.Leu233Pro
ENST00000562767.2:c.84-10750T>C	ENSP00000456336.1:n.84-10750T>C
ENST00000563917.2:n.540T>C
ENST00000565471.6:c.239T>C	ENSP00000457384.1:p.Leu80Pro
ENST00000635747.1:c.*601T>C	ENSP00000490627.1:n.*601T>C
ENST00000636212.1:c.*368T>C	ENSP00000489851.1:n.*368T>C
ENST00000636674.1:n.1800T>C
ENST00000636964.1:n.2226T>C
ENST00000637054.1:c.198+10158T>C	ENSP00000490807.1:n.198+10158T>C
ENST00000637329.1:c.667T>C
ENST00000637450.1:c.*352T>C	ENSP00000490204.1:n.*352T>C
ENST00000637494.1:c.410T>C	ENSP00000490057.1:p.Leu137Pro
ENST00000637667.1:c.599T>C	ENSP00000489843.1:p.Leu200Pro
ENST00000637823.1:c.523T>C
ENST00000637888.1:c.198+10158T>C	ENSP00000490546.1:n.198+10158T>C
ENST00000638076.1:c.*301T>C	ENSP00000490373.1:n.*301T>C
ENST00000638144.1:n.341T>C
ENST00000646164.1:c.39-8697T>C
ENST00000249806.9:c.698T>C	ENSP00000249806.5:p.Leu233Pro
ENST00000538696.5:c.794T>C	ENSP00000445770.1:p.Leu265Pro
ENST00000562767.1:c.84-10750T>C	ENSP00000456336.1:n.84-10750T>C
ENST00000564752.1:c.*82T>C	ENSP00000457822.1:n.*82T>C
ENST00000565471.5:c.239T>C	ENSP00000457384.1:p.Leu80Pro
ENST00000566347.5:c.509T>C	ENSP00000457783.1:p.Leu170Pro
ENST00000567060.5:c.*96T>C	ENSP00000454818.1:n.*96T>C
NM_017882.2:c.698T>C	NP_060352.1:p.Leu233Pro
NM_017882.3:c.698T>C MANE Select	NP_060352.1:p.Leu233Pro