Canonical Allele Identifier: CA392972930

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502046A>G (hg19) ; chr15:g.68209708A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209708A>G , CM000677.2:g.68209708A>G	GRCh38
NC_000015.9:g.68502046A>G , CM000677.1:g.68502046A>G	GRCh37
NC_000015.8:g.66289100A>G	NCBI36
NG_008764.2:g.52504T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.594T>C MANE Select	ENSP00000249806.5:p.Thr198=
ENST00000562767.2:c.84-12080T>C	ENSP00000456336.1:n.84-12080T>C
ENST00000563917.2:n.436T>C
ENST00000565471.6:c.135T>C	ENSP00000457384.1:p.Thr45=
ENST00000635747.1:c.*497T>C	ENSP00000490627.1:n.*497T>C
ENST00000636212.1:c.*264T>C	ENSP00000489851.1:n.*264T>C
ENST00000636314.1:c.290T>C	ENSP00000490295.1:p.Leu97Pro
ENST00000636674.1:n.1696T>C
ENST00000636964.1:n.2122T>C
ENST00000637054.1:c.198+8828T>C	ENSP00000490807.1:n.198+8828T>C
ENST00000637223.1:c.*308T>C	ENSP00000490010.1:n.*308T>C
ENST00000637329.1:c.563T>C
ENST00000637450.1:c.*248T>C	ENSP00000490204.1:n.*248T>C
ENST00000637494.1:c.306T>C	ENSP00000490057.1:p.Thr102=
ENST00000637667.1:c.495T>C	ENSP00000489843.1:p.Thr165=
ENST00000637823.1:c.419T>C
ENST00000637888.1:c.198+8828T>C	ENSP00000490546.1:n.198+8828T>C
ENST00000638076.1:c.*197T>C	ENSP00000490373.1:n.*197T>C
ENST00000638144.1:n.237T>C
ENST00000646164.1:c.38+8828T>C
ENST00000249806.9:c.594T>C	ENSP00000249806.5:p.Thr198=
ENST00000538696.5:c.690T>C	ENSP00000445770.1:p.Thr230=
ENST00000562767.1:c.84-12080T>C	ENSP00000456336.1:n.84-12080T>C
ENST00000563917.1:n.494T>C
ENST00000564752.1:c.620T>C	ENSP00000457822.1:p.Leu207Pro
ENST00000565471.5:c.135T>C	ENSP00000457384.1:p.Thr45=
ENST00000566347.5:c.405T>C	ENSP00000457783.1:p.Thr135=
ENST00000567060.5:c.310T>C	ENSP00000454818.1:p.Cys104Arg
NM_017882.2:c.594T>C	NP_060352.1:p.Thr198=
XR_931861.1:n.816T>C
NM_017882.3:c.594T>C MANE Select	NP_060352.1:p.Thr198=