Canonical Allele Identifier: CA290146

Gene: CLN6

Linked Data

• ClinVar Variation Id: 136799
• ClinVar RCV Id: RCV000124342 ; RCV000529403 ; RCV002354313
• dbSNP Id: rs144507672
• ExAC: 15:68502055 G / A
• gnomAD v2: 15-68502055-G-A
• gnomAD v3: 15-68209717-G-A
• gnomAD v4: 15-68209717-G-A
• MyVariant Identifiers: chr15:g.68502055G>A (hg19) ; chr15:g.68209717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209717G>A , CM000677.2:g.68209717G>A	GRCh38
NC_000015.9:g.68502055G>A , CM000677.1:g.68502055G>A	GRCh37
NC_000015.8:g.66289109G>A	NCBI36
NG_008764.2:g.52495C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.585C>T MANE Select	ENSP00000249806.5:p.Gly195=
ENST00000562767.2:c.84-12089C>T	ENSP00000456336.1:n.84-12089C>T
ENST00000563917.2:n.427C>T
ENST00000565471.6:c.126C>T	ENSP00000457384.1:p.Gly42=
ENST00000635747.1:c.*488C>T	ENSP00000490627.1:n.*488C>T
ENST00000636212.1:c.*255C>T	ENSP00000489851.1:n.*255C>T
ENST00000636314.1:c.281C>T	ENSP00000490295.1:p.Ala94Val
ENST00000636674.1:n.1687C>T
ENST00000636964.1:n.2113C>T
ENST00000637054.1:c.198+8819C>T	ENSP00000490807.1:n.198+8819C>T
ENST00000637223.1:c.*299C>T	ENSP00000490010.1:n.*299C>T
ENST00000637329.1:c.554C>T
ENST00000637450.1:c.*239C>T	ENSP00000490204.1:n.*239C>T
ENST00000637494.1:c.297C>T	ENSP00000490057.1:p.Gly99=
ENST00000637667.1:c.486C>T	ENSP00000489843.1:p.Gly162=
ENST00000637823.1:c.410C>T
ENST00000637888.1:c.198+8819C>T	ENSP00000490546.1:n.198+8819C>T
ENST00000638076.1:c.*188C>T	ENSP00000490373.1:n.*188C>T
ENST00000638144.1:n.228C>T
ENST00000646164.1:c.38+8819C>T
ENST00000249806.9:c.585C>T	ENSP00000249806.5:p.Gly195=
ENST00000538696.5:c.681C>T	ENSP00000445770.1:p.Gly227=
ENST00000562767.1:c.84-12089C>T	ENSP00000456336.1:n.84-12089C>T
ENST00000563917.1:n.485C>T
ENST00000564752.1:c.611C>T	ENSP00000457822.1:p.Ala204Val
ENST00000565471.5:c.126C>T	ENSP00000457384.1:p.Gly42=
ENST00000566347.5:c.396C>T	ENSP00000457783.1:p.Gly132=
ENST00000567060.5:c.301C>T	ENSP00000454818.1:p.Leu101=
NM_017882.2:c.585C>T	NP_060352.1:p.Gly195=
XR_931861.1:n.807C>T
NM_017882.3:c.585C>T MANE Select	NP_060352.1:p.Gly195=