Canonical Allele Identifier: CA392972934

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209710-T-C
• COSMIC: COSM6418408
• MyVariant Identifiers: chr15:g.68502048T>C (hg19) ; chr15:g.68209710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209710T>C , CM000677.2:g.68209710T>C	GRCh38
NC_000015.9:g.68502048T>C , CM000677.1:g.68502048T>C	GRCh37
NC_000015.8:g.66289102T>C	NCBI36
NG_008764.2:g.52502A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.592A>G MANE Select	ENSP00000249806.5:p.Thr198Ala
ENST00000562767.2:c.84-12082A>G	ENSP00000456336.1:n.84-12082A>G
ENST00000563917.2:n.434A>G
ENST00000565471.6:c.133A>G	ENSP00000457384.1:p.Thr45Ala
ENST00000635747.1:c.*495A>G	ENSP00000490627.1:n.*495A>G
ENST00000636212.1:c.*262A>G	ENSP00000489851.1:n.*262A>G
ENST00000636314.1:c.288A>G	ENSP00000490295.1:p.Leu96=
ENST00000636674.1:n.1694A>G
ENST00000636964.1:n.2120A>G
ENST00000637054.1:c.198+8826A>G	ENSP00000490807.1:n.198+8826A>G
ENST00000637223.1:c.*306A>G	ENSP00000490010.1:n.*306A>G
ENST00000637329.1:c.561A>G
ENST00000637450.1:c.*246A>G	ENSP00000490204.1:n.*246A>G
ENST00000637494.1:c.304A>G	ENSP00000490057.1:p.Thr102Ala
ENST00000637667.1:c.493A>G	ENSP00000489843.1:p.Thr165Ala
ENST00000637823.1:c.417A>G
ENST00000637888.1:c.198+8826A>G	ENSP00000490546.1:n.198+8826A>G
ENST00000638076.1:c.*195A>G	ENSP00000490373.1:n.*195A>G
ENST00000638144.1:n.235A>G
ENST00000646164.1:c.38+8826A>G
ENST00000249806.9:c.592A>G	ENSP00000249806.5:p.Thr198Ala
ENST00000538696.5:c.688A>G	ENSP00000445770.1:p.Thr230Ala
ENST00000562767.1:c.84-12082A>G	ENSP00000456336.1:n.84-12082A>G
ENST00000563917.1:n.492A>G
ENST00000564752.1:c.618A>G	ENSP00000457822.1:p.Leu206=
ENST00000565471.5:c.133A>G	ENSP00000457384.1:p.Thr45Ala
ENST00000566347.5:c.403A>G	ENSP00000457783.1:p.Thr135Ala
ENST00000567060.5:c.308A>G	ENSP00000454818.1:p.Tyr103Cys
NM_017882.2:c.592A>G	NP_060352.1:p.Thr198Ala
XR_931861.1:n.814A>G
NM_017882.3:c.592A>G MANE Select	NP_060352.1:p.Thr198Ala