Canonical Allele Identifier: CA392973001

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502072A>G (hg19) ; chr15:g.68209734A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209734A>G , CM000677.2:g.68209734A>G	GRCh38
NC_000015.9:g.68502072A>G , CM000677.1:g.68502072A>G	GRCh37
NC_000015.8:g.66289126A>G	NCBI36
NG_008764.2:g.52478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.568T>C MANE Select	ENSP00000249806.5:p.Phe190Leu
ENST00000562767.2:c.84-12106T>C	ENSP00000456336.1:n.84-12106T>C
ENST00000563917.2:n.410T>C
ENST00000565471.6:c.109T>C	ENSP00000457384.1:p.Phe37Leu
ENST00000635747.1:c.*471T>C	ENSP00000490627.1:n.*471T>C
ENST00000636212.1:c.*238T>C	ENSP00000489851.1:n.*238T>C
ENST00000636314.1:c.264T>C	ENSP00000490295.1:p.Ser88=
ENST00000636674.1:n.1670T>C
ENST00000636964.1:n.2096T>C
ENST00000637054.1:c.198+8802T>C	ENSP00000490807.1:n.198+8802T>C
ENST00000637223.1:c.*282T>C	ENSP00000490010.1:n.*282T>C
ENST00000637329.1:c.537T>C
ENST00000637450.1:c.*222T>C	ENSP00000490204.1:n.*222T>C
ENST00000637494.1:c.280T>C	ENSP00000490057.1:p.Phe94Leu
ENST00000637667.1:c.469T>C	ENSP00000489843.1:p.Phe157Leu
ENST00000637823.1:c.393T>C
ENST00000637888.1:c.198+8802T>C	ENSP00000490546.1:n.198+8802T>C
ENST00000638076.1:c.*171T>C	ENSP00000490373.1:n.*171T>C
ENST00000638144.1:n.211T>C
ENST00000646164.1:c.38+8802T>C
ENST00000249806.9:c.568T>C	ENSP00000249806.5:p.Phe190Leu
ENST00000538696.5:c.664T>C	ENSP00000445770.1:p.Phe222Leu
ENST00000562767.1:c.84-12106T>C	ENSP00000456336.1:n.84-12106T>C
ENST00000563917.1:n.468T>C
ENST00000564752.1:c.594T>C	ENSP00000457822.1:p.Ser198=
ENST00000565471.5:c.109T>C	ENSP00000457384.1:p.Phe37Leu
ENST00000566347.5:c.379T>C	ENSP00000457783.1:p.Phe127Leu
ENST00000567060.5:c.298-14T>C	ENSP00000454818.1:n.298-14T>C
NM_017882.2:c.568T>C	NP_060352.1:p.Phe190Leu
XR_931861.1:n.790T>C
NM_017882.3:c.568T>C MANE Select	NP_060352.1:p.Phe190Leu