Canonical Allele Identifier: CA7630443

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1436886
• ClinVar RCV Id: RCV001955364 ; RCV002479509
• dbSNP Id: rs146801142
• ExAC: 15:68500495 C / T
• gnomAD v2: 15-68500495-C-T
• gnomAD v3: 15-68208157-C-T
• gnomAD v4: 15-68208157-C-T
• MyVariant Identifiers: chr15:g.68500495C>T (hg19) ; chr15:g.68208157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208157C>T , CM000677.2:g.68208157C>T	GRCh38
NC_000015.9:g.68500495C>T , CM000677.1:g.68500495C>T	GRCh37
NC_000015.8:g.66287549C>T	NCBI36
NG_008764.2:g.54055G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.919G>A MANE Select	ENSP00000249806.5:p.Val307Ile
ENST00000562767.2:c.84-10529G>A	ENSP00000456336.1:n.84-10529G>A
ENST00000565471.6:c.460G>A	ENSP00000457384.1:p.Val154Ile
ENST00000635747.1:c.*822G>A	ENSP00000490627.1:n.*822G>A
ENST00000636212.1:c.*589G>A	ENSP00000489851.1:n.*589G>A
ENST00000636964.1:n.2447G>A
ENST00000637054.1:c.198+10379G>A	ENSP00000490807.1:n.198+10379G>A
ENST00000637329.1:c.888G>A
ENST00000637494.1:c.631G>A	ENSP00000490057.1:p.Val211Ile
ENST00000637888.1:c.198+10379G>A	ENSP00000490546.1:n.198+10379G>A
ENST00000638076.1:c.*522G>A	ENSP00000490373.1:n.*522G>A
ENST00000638144.1:n.562G>A
ENST00000646164.1:c.39-8476G>A
ENST00000249806.9:c.919G>A	ENSP00000249806.5:p.Val307Ile
ENST00000538696.5:c.1015G>A	ENSP00000445770.1:p.Val339Ile
ENST00000562767.1:c.84-10529G>A	ENSP00000456336.1:n.84-10529G>A
ENST00000565471.5:c.460G>A	ENSP00000457384.1:p.Val154Ile
ENST00000566347.5:c.730G>A	ENSP00000457783.1:p.Val244Ile
ENST00000567060.5:c.*317G>A	ENSP00000454818.1:n.*317G>A
NM_017882.2:c.919G>A	NP_060352.1:p.Val307Ile
NM_017882.3:c.919G>A MANE Select	NP_060352.1:p.Val307Ile