Canonical Allele Identifier: CA290150

Gene: CLN6

Linked Data

• ClinVar Variation Id: 136801
• ClinVar RCV Id: RCV000124344 ; RCV000533512 ; RCV003390812
• dbSNP Id: rs151186473
• ExAC: 15:68500592 C / T
• gnomAD v2: 15-68500592-C-T
• gnomAD v3: 15-68208254-C-T
• gnomAD v4: 15-68208254-C-T
• COSMIC: COSM4056482
• MyVariant Identifiers: chr15:g.68500592C>T (hg19) ; chr15:g.68208254C>T (hg38)
• PubMed: PMID:17046213 ; PMID:17988881

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208254C>T , CM000677.2:g.68208254C>T	GRCh38
NC_000015.9:g.68500592C>T , CM000677.1:g.68500592C>T	GRCh37
NC_000015.8:g.66287646C>T	NCBI36
NG_008764.2:g.53958G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.822G>A MANE Select	ENSP00000249806.5:p.Ala274=
ENST00000562767.2:c.84-10626G>A	ENSP00000456336.1:n.84-10626G>A
ENST00000565471.6:c.363G>A	ENSP00000457384.1:p.Ala121=
ENST00000635747.1:c.*725G>A	ENSP00000490627.1:n.*725G>A
ENST00000636212.1:c.*492G>A	ENSP00000489851.1:n.*492G>A
ENST00000636674.1:n.1924G>A
ENST00000636964.1:n.2350G>A
ENST00000637054.1:c.198+10282G>A	ENSP00000490807.1:n.198+10282G>A
ENST00000637329.1:c.791G>A
ENST00000637450.1:c.*476G>A	ENSP00000490204.1:n.*476G>A
ENST00000637494.1:c.534G>A	ENSP00000490057.1:p.Ala178=
ENST00000637667.1:c.723G>A	ENSP00000489843.1:p.Ala241=
ENST00000637823.1:c.647G>A
ENST00000637888.1:c.198+10282G>A	ENSP00000490546.1:n.198+10282G>A
ENST00000638076.1:c.*425G>A	ENSP00000490373.1:n.*425G>A
ENST00000638144.1:n.465G>A
ENST00000646164.1:c.39-8573G>A
ENST00000249806.9:c.822G>A	ENSP00000249806.5:p.Ala274=
ENST00000538696.5:c.918G>A	ENSP00000445770.1:p.Ala306=
ENST00000562767.1:c.84-10626G>A	ENSP00000456336.1:n.84-10626G>A
ENST00000565471.5:c.363G>A	ENSP00000457384.1:p.Ala121=
ENST00000566347.5:c.633G>A	ENSP00000457783.1:p.Ala211=
ENST00000567060.5:c.*220G>A	ENSP00000454818.1:n.*220G>A
NM_017882.2:c.822G>A	NP_060352.1:p.Ala274=
NM_017882.3:c.822G>A MANE Select	NP_060352.1:p.Ala274=