Canonical Allele Identifier: CA392972900

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502035G>A (hg19) ; chr15:g.68209697G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209697G>A , CM000677.2:g.68209697G>A	GRCh38
NC_000015.9:g.68502035G>A , CM000677.1:g.68502035G>A	GRCh37
NC_000015.8:g.66289089G>A	NCBI36
NG_008764.2:g.52515C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.605C>T MANE Select	ENSP00000249806.5:p.Ala202Val
ENST00000562767.2:c.84-12069C>T	ENSP00000456336.1:n.84-12069C>T
ENST00000563917.2:n.447C>T
ENST00000565471.6:c.146C>T	ENSP00000457384.1:p.Ala49Val
ENST00000635747.1:c.*508C>T	ENSP00000490627.1:n.*508C>T
ENST00000636212.1:c.*275C>T	ENSP00000489851.1:n.*275C>T
ENST00000636314.1:c.301C>T	ENSP00000490295.1:p.Leu101=
ENST00000636674.1:n.1707C>T
ENST00000636964.1:n.2133C>T
ENST00000637054.1:c.198+8839C>T	ENSP00000490807.1:n.198+8839C>T
ENST00000637329.1:c.574C>T
ENST00000637450.1:c.*259C>T	ENSP00000490204.1:n.*259C>T
ENST00000637494.1:c.317C>T	ENSP00000490057.1:p.Ala106Val
ENST00000637667.1:c.506C>T	ENSP00000489843.1:p.Ala169Val
ENST00000637823.1:c.430C>T
ENST00000637888.1:c.198+8839C>T	ENSP00000490546.1:n.198+8839C>T
ENST00000638076.1:c.*208C>T	ENSP00000490373.1:n.*208C>T
ENST00000638144.1:n.248C>T
ENST00000646164.1:c.38+8839C>T
ENST00000249806.9:c.605C>T	ENSP00000249806.5:p.Ala202Val
ENST00000538696.5:c.701C>T	ENSP00000445770.1:p.Ala234Val
ENST00000562767.1:c.84-12069C>T	ENSP00000456336.1:n.84-12069C>T
ENST00000563917.1:n.505C>T
ENST00000564752.1:c.631C>T	ENSP00000457822.1:p.Leu211=
ENST00000565471.5:c.146C>T	ENSP00000457384.1:p.Ala49Val
ENST00000566347.5:c.416C>T	ENSP00000457783.1:p.Ala139Val
ENST00000567060.5:c.*3C>T	ENSP00000454818.1:n.*3C>T
NM_017882.2:c.605C>T	NP_060352.1:p.Ala202Val
XR_931861.1:n.827C>T
NM_017882.3:c.605C>T MANE Select	NP_060352.1:p.Ala202Val