Canonical Allele Identifier: CA392973032

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502084A>G (hg19) ; chr15:g.68209746A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209746A>G , CM000677.2:g.68209746A>G	GRCh38
NC_000015.9:g.68502084A>G , CM000677.1:g.68502084A>G	GRCh37
NC_000015.8:g.66289138A>G	NCBI36
NG_008764.2:g.52466T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.556T>C MANE Select	ENSP00000249806.5:p.Phe186Leu
ENST00000562767.2:c.84-12118T>C	ENSP00000456336.1:n.84-12118T>C
ENST00000563917.2:n.398T>C
ENST00000565471.6:c.97T>C	ENSP00000457384.1:p.Phe33Leu
ENST00000635747.1:c.*459T>C	ENSP00000490627.1:n.*459T>C
ENST00000636212.1:c.*226T>C	ENSP00000489851.1:n.*226T>C
ENST00000636314.1:c.252T>C	ENSP00000490295.1:p.Ser84=
ENST00000636674.1:n.1658T>C
ENST00000636964.1:n.2084T>C
ENST00000637054.1:c.198+8790T>C	ENSP00000490807.1:n.198+8790T>C
ENST00000637223.1:c.*270T>C	ENSP00000490010.1:n.*270T>C
ENST00000637329.1:c.525T>C
ENST00000637450.1:c.*210T>C	ENSP00000490204.1:n.*210T>C
ENST00000637494.1:c.268T>C	ENSP00000490057.1:p.Phe90Leu
ENST00000637667.1:c.457T>C	ENSP00000489843.1:p.Phe153Leu
ENST00000637823.1:c.381T>C
ENST00000637888.1:c.198+8790T>C	ENSP00000490546.1:n.198+8790T>C
ENST00000638076.1:c.*159T>C	ENSP00000490373.1:n.*159T>C
ENST00000638144.1:n.199T>C
ENST00000646164.1:c.38+8790T>C
ENST00000249806.9:c.556T>C	ENSP00000249806.5:p.Phe186Leu
ENST00000538696.5:c.652T>C	ENSP00000445770.1:p.Phe218Leu
ENST00000562767.1:c.84-12118T>C	ENSP00000456336.1:n.84-12118T>C
ENST00000563917.1:n.456T>C
ENST00000564752.1:c.582T>C	ENSP00000457822.1:p.Ser194=
ENST00000565471.5:c.97T>C	ENSP00000457384.1:p.Phe33Leu
ENST00000566347.5:c.367T>C	ENSP00000457783.1:p.Phe123Leu
ENST00000567060.5:c.298-26T>C	ENSP00000454818.1:n.298-26T>C
NM_017882.2:c.556T>C	NP_060352.1:p.Phe186Leu
XR_931861.1:n.778T>C
NM_017882.3:c.556T>C MANE Select	NP_060352.1:p.Phe186Leu