Canonical Allele Identifier: CA490911544

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209642-G-A
• MyVariant Identifiers: chr15:g.68501980G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.660C>T MANE Select	ENSP00000249806.5:p.Tyr220=
ENST00000562767.2:c.84-12014C>T	ENSP00000456336.1:n.84-12014C>T
ENST00000563917.2:n.502C>T
ENST00000565471.6:c.201C>T	ENSP00000457384.1:p.Tyr67=
ENST00000635747.1:c.*563C>T	ENSP00000490627.1:n.*563C>T
ENST00000636212.1:c.*330C>T	ENSP00000489851.1:n.*330C>T
ENST00000636674.1:n.1762C>T
ENST00000636964.1:n.2188C>T
ENST00000637054.1:c.198+8894C>T	ENSP00000490807.1:n.198+8894C>T
ENST00000637329.1:c.629C>T
ENST00000637450.1:c.*314C>T	ENSP00000490204.1:n.*314C>T
ENST00000637494.1:c.372C>T	ENSP00000490057.1:p.Tyr124=
ENST00000637667.1:c.561C>T	ENSP00000489843.1:p.Tyr187=
ENST00000637823.1:c.485C>T
ENST00000637888.1:c.198+8894C>T	ENSP00000490546.1:n.198+8894C>T
ENST00000638076.1:c.*263C>T	ENSP00000490373.1:n.*263C>T
ENST00000638144.1:n.303C>T
ENST00000646164.1:c.38+8894C>T
ENST00000249806.9:c.660C>T	ENSP00000249806.5:p.Tyr220=
ENST00000538696.5:c.756C>T	ENSP00000445770.1:p.Tyr252=
ENST00000562767.1:c.84-12014C>T	ENSP00000456336.1:n.84-12014C>T
ENST00000563917.1:n.560C>T
ENST00000564752.1:c.*44C>T	ENSP00000457822.1:n.*44C>T
ENST00000565471.5:c.201C>T	ENSP00000457384.1:p.Tyr67=
ENST00000566347.5:c.471C>T	ENSP00000457783.1:p.Tyr157=
ENST00000567060.5:c.*58C>T	ENSP00000454818.1:n.*58C>T
NM_017882.2:c.660C>T	NP_060352.1:p.Tyr220=
XR_931861.1:n.882C>T
NM_017882.3:c.660C>T MANE Select	NP_060352.1:p.Tyr220=