Canonical Allele Identifier: CA392972787

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501980G>T (hg19) ; chr15:g.68209642G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209642G>T , CM000677.2:g.68209642G>T	GRCh38
NC_000015.9:g.68501980G>T , CM000677.1:g.68501980G>T	GRCh37
NC_000015.8:g.66289034G>T	NCBI36
NG_008764.2:g.52570C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.660C>A MANE Select	ENSP00000249806.5:p.Tyr220Ter
ENST00000562767.2:c.84-12014C>A	ENSP00000456336.1:n.84-12014C>A
ENST00000563917.2:n.502C>A
ENST00000565471.6:c.201C>A	ENSP00000457384.1:p.Tyr67Ter
ENST00000635747.1:c.*563C>A	ENSP00000490627.1:n.*563C>A
ENST00000636212.1:c.*330C>A	ENSP00000489851.1:n.*330C>A
ENST00000636674.1:n.1762C>A
ENST00000636964.1:n.2188C>A
ENST00000637054.1:c.198+8894C>A	ENSP00000490807.1:n.198+8894C>A
ENST00000637329.1:c.629C>A
ENST00000637450.1:c.*314C>A	ENSP00000490204.1:n.*314C>A
ENST00000637494.1:c.372C>A	ENSP00000490057.1:p.Tyr124Ter
ENST00000637667.1:c.561C>A	ENSP00000489843.1:p.Tyr187Ter
ENST00000637823.1:c.485C>A
ENST00000637888.1:c.198+8894C>A	ENSP00000490546.1:n.198+8894C>A
ENST00000638076.1:c.*263C>A	ENSP00000490373.1:n.*263C>A
ENST00000638144.1:n.303C>A
ENST00000646164.1:c.38+8894C>A
ENST00000249806.9:c.660C>A	ENSP00000249806.5:p.Tyr220Ter
ENST00000538696.5:c.756C>A	ENSP00000445770.1:p.Tyr252Ter
ENST00000562767.1:c.84-12014C>A	ENSP00000456336.1:n.84-12014C>A
ENST00000563917.1:n.560C>A
ENST00000564752.1:c.*44C>A	ENSP00000457822.1:n.*44C>A
ENST00000565471.5:c.201C>A	ENSP00000457384.1:p.Tyr67Ter
ENST00000566347.5:c.471C>A	ENSP00000457783.1:p.Tyr157Ter
ENST00000567060.5:c.*58C>A	ENSP00000454818.1:n.*58C>A
NM_017882.2:c.660C>A	NP_060352.1:p.Tyr220Ter
XR_931861.1:n.882C>A
NM_017882.3:c.660C>A MANE Select	NP_060352.1:p.Tyr220Ter