Canonical Allele Identifier: CA392972000

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500652G>C (hg19) ; chr15:g.68208314G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208314G>C , CM000677.2:g.68208314G>C	GRCh38
NC_000015.9:g.68500652G>C , CM000677.1:g.68500652G>C	GRCh37
NC_000015.8:g.66287706G>C	NCBI36
NG_008764.2:g.53898C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.762C>G MANE Select	ENSP00000249806.5:p.Phe254Leu
ENST00000562767.2:c.84-10686C>G	ENSP00000456336.1:n.84-10686C>G
ENST00000565471.6:c.303C>G	ENSP00000457384.1:p.Phe101Leu
ENST00000635747.1:c.*665C>G	ENSP00000490627.1:n.*665C>G
ENST00000636212.1:c.*432C>G	ENSP00000489851.1:n.*432C>G
ENST00000636674.1:n.1864C>G
ENST00000636964.1:n.2290C>G
ENST00000637054.1:c.198+10222C>G	ENSP00000490807.1:n.198+10222C>G
ENST00000637329.1:c.731C>G
ENST00000637450.1:c.*416C>G	ENSP00000490204.1:n.*416C>G
ENST00000637494.1:c.474C>G	ENSP00000490057.1:p.Phe158Leu
ENST00000637667.1:c.663C>G	ENSP00000489843.1:p.Phe221Leu
ENST00000637823.1:c.587C>G
ENST00000637888.1:c.198+10222C>G	ENSP00000490546.1:n.198+10222C>G
ENST00000638076.1:c.*365C>G	ENSP00000490373.1:n.*365C>G
ENST00000638144.1:n.405C>G
ENST00000646164.1:c.39-8633C>G
ENST00000249806.9:c.762C>G	ENSP00000249806.5:p.Phe254Leu
ENST00000538696.5:c.858C>G	ENSP00000445770.1:p.Phe286Leu
ENST00000562767.1:c.84-10686C>G	ENSP00000456336.1:n.84-10686C>G
ENST00000565471.5:c.303C>G	ENSP00000457384.1:p.Phe101Leu
ENST00000566347.5:c.573C>G	ENSP00000457783.1:p.Phe191Leu
ENST00000567060.5:c.*160C>G	ENSP00000454818.1:n.*160C>G
NM_017882.2:c.762C>G	NP_060352.1:p.Phe254Leu
NM_017882.3:c.762C>G MANE Select	NP_060352.1:p.Phe254Leu