Canonical Allele Identifier: CA7630492

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2961290
• ClinVar RCV Id: RCV003820001
• dbSNP Id: rs769339144
• ExAC: 15:68500739 G / A
• gnomAD v2: 15-68500739-G-A
• gnomAD v4: 15-68208401-G-A
• MyVariant Identifiers: chr15:g.68500739G>A (hg19) ; chr15:g.68208401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208401G>A , CM000677.2:g.68208401G>A	GRCh38
NC_000015.9:g.68500739G>A , CM000677.1:g.68500739G>A	GRCh37
NC_000015.8:g.66287793G>A	NCBI36
NG_008764.2:g.53811C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.675C>T MANE Select	ENSP00000249806.5:p.Val225=
ENST00000562767.2:c.84-10773C>T	ENSP00000456336.1:n.84-10773C>T
ENST00000563917.2:n.517C>T
ENST00000565471.6:c.216C>T	ENSP00000457384.1:p.Val72=
ENST00000635747.1:c.*578C>T	ENSP00000490627.1:n.*578C>T
ENST00000636212.1:c.*345C>T	ENSP00000489851.1:n.*345C>T
ENST00000636674.1:n.1777C>T
ENST00000636964.1:n.2203C>T
ENST00000637054.1:c.198+10135C>T	ENSP00000490807.1:n.198+10135C>T
ENST00000637329.1:c.644C>T
ENST00000637450.1:c.*329C>T	ENSP00000490204.1:n.*329C>T
ENST00000637494.1:c.387C>T	ENSP00000490057.1:p.Val129=
ENST00000637667.1:c.576C>T	ENSP00000489843.1:p.Val192=
ENST00000637823.1:c.500C>T
ENST00000637888.1:c.198+10135C>T	ENSP00000490546.1:n.198+10135C>T
ENST00000638076.1:c.*278C>T	ENSP00000490373.1:n.*278C>T
ENST00000638144.1:n.318C>T
ENST00000646164.1:c.39-8720C>T
ENST00000249806.9:c.675C>T	ENSP00000249806.5:p.Val225=
ENST00000538696.5:c.771C>T	ENSP00000445770.1:p.Val257=
ENST00000562767.1:c.84-10773C>T	ENSP00000456336.1:n.84-10773C>T
ENST00000564752.1:c.*59C>T	ENSP00000457822.1:n.*59C>T
ENST00000565471.5:c.216C>T	ENSP00000457384.1:p.Val72=
ENST00000566347.5:c.486C>T	ENSP00000457783.1:p.Val162=
ENST00000567060.5:c.*73C>T	ENSP00000454818.1:n.*73C>T
NM_017882.2:c.675C>T	NP_060352.1:p.Val225=
XR_931861.1:n.897C>T
NM_017882.3:c.675C>T MANE Select	NP_060352.1:p.Val225=