Canonical Allele Identifier: CA392971943

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500625G>T (hg19) ; chr15:g.68208287G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208287G>T , CM000677.2:g.68208287G>T	GRCh38
NC_000015.9:g.68500625G>T , CM000677.1:g.68500625G>T	GRCh37
NC_000015.8:g.66287679G>T	NCBI36
NG_008764.2:g.53925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.789C>A MANE Select	ENSP00000249806.5:p.Phe263Leu
ENST00000562767.2:c.84-10659C>A	ENSP00000456336.1:n.84-10659C>A
ENST00000565471.6:c.330C>A	ENSP00000457384.1:p.Phe110Leu
ENST00000635747.1:c.*692C>A	ENSP00000490627.1:n.*692C>A
ENST00000636212.1:c.*459C>A	ENSP00000489851.1:n.*459C>A
ENST00000636674.1:n.1891C>A
ENST00000636964.1:n.2317C>A
ENST00000637054.1:c.198+10249C>A	ENSP00000490807.1:n.198+10249C>A
ENST00000637329.1:c.758C>A
ENST00000637450.1:c.*443C>A	ENSP00000490204.1:n.*443C>A
ENST00000637494.1:c.501C>A	ENSP00000490057.1:p.Phe167Leu
ENST00000637667.1:c.690C>A	ENSP00000489843.1:p.Phe230Leu
ENST00000637823.1:c.614C>A
ENST00000637888.1:c.198+10249C>A	ENSP00000490546.1:n.198+10249C>A
ENST00000638076.1:c.*392C>A	ENSP00000490373.1:n.*392C>A
ENST00000638144.1:n.432C>A
ENST00000646164.1:c.39-8606C>A
ENST00000249806.9:c.789C>A	ENSP00000249806.5:p.Phe263Leu
ENST00000538696.5:c.885C>A	ENSP00000445770.1:p.Phe295Leu
ENST00000562767.1:c.84-10659C>A	ENSP00000456336.1:n.84-10659C>A
ENST00000565471.5:c.330C>A	ENSP00000457384.1:p.Phe110Leu
ENST00000566347.5:c.600C>A	ENSP00000457783.1:p.Phe200Leu
ENST00000567060.5:c.*187C>A	ENSP00000454818.1:n.*187C>A
NM_017882.2:c.789C>A	NP_060352.1:p.Phe263Leu
NM_017882.3:c.789C>A MANE Select	NP_060352.1:p.Phe263Leu