Canonical Allele Identifier: CA392972991

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502069T>G (hg19) ; chr15:g.68209731T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209731T>G , CM000677.2:g.68209731T>G	GRCh38
NC_000015.9:g.68502069T>G , CM000677.1:g.68502069T>G	GRCh37
NC_000015.8:g.66289123T>G	NCBI36
NG_008764.2:g.52481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.571A>C MANE Select	ENSP00000249806.5:p.Met191Leu
ENST00000562767.2:c.84-12103A>C	ENSP00000456336.1:n.84-12103A>C
ENST00000563917.2:n.413A>C
ENST00000565471.6:c.112A>C	ENSP00000457384.1:p.Met38Leu
ENST00000635747.1:c.*474A>C	ENSP00000490627.1:n.*474A>C
ENST00000636212.1:c.*241A>C	ENSP00000489851.1:n.*241A>C
ENST00000636314.1:c.267A>C	ENSP00000490295.1:p.Ser89=
ENST00000636674.1:n.1673A>C
ENST00000636964.1:n.2099A>C
ENST00000637054.1:c.198+8805A>C	ENSP00000490807.1:n.198+8805A>C
ENST00000637223.1:c.*285A>C	ENSP00000490010.1:n.*285A>C
ENST00000637329.1:c.540A>C
ENST00000637450.1:c.*225A>C	ENSP00000490204.1:n.*225A>C
ENST00000637494.1:c.283A>C	ENSP00000490057.1:p.Met95Leu
ENST00000637667.1:c.472A>C	ENSP00000489843.1:p.Met158Leu
ENST00000637823.1:c.396A>C
ENST00000637888.1:c.198+8805A>C	ENSP00000490546.1:n.198+8805A>C
ENST00000638076.1:c.*174A>C	ENSP00000490373.1:n.*174A>C
ENST00000638144.1:n.214A>C
ENST00000646164.1:c.38+8805A>C
ENST00000249806.9:c.571A>C	ENSP00000249806.5:p.Met191Leu
ENST00000538696.5:c.667A>C	ENSP00000445770.1:p.Met223Leu
ENST00000562767.1:c.84-12103A>C	ENSP00000456336.1:n.84-12103A>C
ENST00000563917.1:n.471A>C
ENST00000564752.1:c.597A>C	ENSP00000457822.1:p.Ser199=
ENST00000565471.5:c.112A>C	ENSP00000457384.1:p.Met38Leu
ENST00000566347.5:c.382A>C	ENSP00000457783.1:p.Met128Leu
ENST00000567060.5:c.298-11A>C	ENSP00000454818.1:n.298-11A>C
NM_017882.2:c.571A>C	NP_060352.1:p.Met191Leu
XR_931861.1:n.793A>C
NM_017882.3:c.571A>C MANE Select	NP_060352.1:p.Met191Leu