Canonical Allele Identifier: CA392971886

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500601C>A (hg19) ; chr15:g.68208263C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208263C>A , CM000677.2:g.68208263C>A	GRCh38
NC_000015.9:g.68500601C>A , CM000677.1:g.68500601C>A	GRCh37
NC_000015.8:g.66287655C>A	NCBI36
NG_008764.2:g.53949G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.813G>T MANE Select	ENSP00000249806.5:p.Leu271Phe
ENST00000562767.2:c.84-10635G>T	ENSP00000456336.1:n.84-10635G>T
ENST00000565471.6:c.354G>T	ENSP00000457384.1:p.Leu118Phe
ENST00000635747.1:c.*716G>T	ENSP00000490627.1:n.*716G>T
ENST00000636212.1:c.*483G>T	ENSP00000489851.1:n.*483G>T
ENST00000636674.1:n.1915G>T
ENST00000636964.1:n.2341G>T
ENST00000637054.1:c.198+10273G>T	ENSP00000490807.1:n.198+10273G>T
ENST00000637329.1:c.782G>T
ENST00000637450.1:c.*467G>T	ENSP00000490204.1:n.*467G>T
ENST00000637494.1:c.525G>T	ENSP00000490057.1:p.Leu175Phe
ENST00000637667.1:c.714G>T	ENSP00000489843.1:p.Leu238Phe
ENST00000637823.1:c.638G>T
ENST00000637888.1:c.198+10273G>T	ENSP00000490546.1:n.198+10273G>T
ENST00000638076.1:c.*416G>T	ENSP00000490373.1:n.*416G>T
ENST00000638144.1:n.456G>T
ENST00000646164.1:c.39-8582G>T
ENST00000249806.9:c.813G>T	ENSP00000249806.5:p.Leu271Phe
ENST00000538696.5:c.909G>T	ENSP00000445770.1:p.Leu303Phe
ENST00000562767.1:c.84-10635G>T	ENSP00000456336.1:n.84-10635G>T
ENST00000565471.5:c.354G>T	ENSP00000457384.1:p.Leu118Phe
ENST00000566347.5:c.624G>T	ENSP00000457783.1:p.Leu208Phe
ENST00000567060.5:c.*211G>T	ENSP00000454818.1:n.*211G>T
NM_017882.2:c.813G>T	NP_060352.1:p.Leu271Phe
NM_017882.3:c.813G>T MANE Select	NP_060352.1:p.Leu271Phe