Canonical Allele Identifier: CA392972973

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502063A>C (hg19) ; chr15:g.68209725A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209725A>C , CM000677.2:g.68209725A>C	GRCh38
NC_000015.9:g.68502063A>C , CM000677.1:g.68502063A>C	GRCh37
NC_000015.8:g.66289117A>C	NCBI36
NG_008764.2:g.52487T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.577T>G MANE Select	ENSP00000249806.5:p.Phe193Val
ENST00000562767.2:c.84-12097T>G	ENSP00000456336.1:n.84-12097T>G
ENST00000563917.2:n.419T>G
ENST00000565471.6:c.118T>G	ENSP00000457384.1:p.Phe40Val
ENST00000635747.1:c.*480T>G	ENSP00000490627.1:n.*480T>G
ENST00000636212.1:c.*247T>G	ENSP00000489851.1:n.*247T>G
ENST00000636314.1:c.273T>G	ENSP00000490295.1:p.Thr91=
ENST00000636674.1:n.1679T>G
ENST00000636964.1:n.2105T>G
ENST00000637054.1:c.198+8811T>G	ENSP00000490807.1:n.198+8811T>G
ENST00000637223.1:c.*291T>G	ENSP00000490010.1:n.*291T>G
ENST00000637329.1:c.546T>G
ENST00000637450.1:c.*231T>G	ENSP00000490204.1:n.*231T>G
ENST00000637494.1:c.289T>G	ENSP00000490057.1:p.Phe97Val
ENST00000637667.1:c.478T>G	ENSP00000489843.1:p.Phe160Val
ENST00000637823.1:c.402T>G
ENST00000637888.1:c.198+8811T>G	ENSP00000490546.1:n.198+8811T>G
ENST00000638076.1:c.*180T>G	ENSP00000490373.1:n.*180T>G
ENST00000638144.1:n.220T>G
ENST00000646164.1:c.38+8811T>G
ENST00000249806.9:c.577T>G	ENSP00000249806.5:p.Phe193Val
ENST00000538696.5:c.673T>G	ENSP00000445770.1:p.Phe225Val
ENST00000562767.1:c.84-12097T>G	ENSP00000456336.1:n.84-12097T>G
ENST00000563917.1:n.477T>G
ENST00000564752.1:c.603T>G	ENSP00000457822.1:p.Thr201=
ENST00000565471.5:c.118T>G	ENSP00000457384.1:p.Phe40Val
ENST00000566347.5:c.388T>G	ENSP00000457783.1:p.Phe130Val
ENST00000567060.5:c.298-5T>G	ENSP00000454818.1:n.298-5T>G
NM_017882.2:c.577T>G	NP_060352.1:p.Phe193Val
XR_931861.1:n.799T>G
NM_017882.3:c.577T>G MANE Select	NP_060352.1:p.Phe193Val