Canonical Allele Identifier: CA491100081

Gene: CLN6

Linked Data

• COSMIC: COSM5759967
• MyVariant Identifiers: chr15:g.68500724G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208386G>A , CM000677.2:g.68208386G>A	GRCh38
NC_000015.9:g.68500724G>A , CM000677.1:g.68500724G>A	GRCh37
NC_000015.8:g.66287778G>A	NCBI36
NG_008764.2:g.53826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.690C>T MANE Select	ENSP00000249806.5:p.Ile230=
ENST00000562767.2:c.84-10758C>T	ENSP00000456336.1:n.84-10758C>T
ENST00000563917.2:n.532C>T
ENST00000565471.6:c.231C>T	ENSP00000457384.1:p.Ile77=
ENST00000635747.1:c.*593C>T	ENSP00000490627.1:n.*593C>T
ENST00000636212.1:c.*360C>T	ENSP00000489851.1:n.*360C>T
ENST00000636674.1:n.1792C>T
ENST00000636964.1:n.2218C>T
ENST00000637054.1:c.198+10150C>T	ENSP00000490807.1:n.198+10150C>T
ENST00000637329.1:c.659C>T
ENST00000637450.1:c.*344C>T	ENSP00000490204.1:n.*344C>T
ENST00000637494.1:c.402C>T	ENSP00000490057.1:p.Ile134=
ENST00000637667.1:c.591C>T	ENSP00000489843.1:p.Ile197=
ENST00000637823.1:c.515C>T
ENST00000637888.1:c.198+10150C>T	ENSP00000490546.1:n.198+10150C>T
ENST00000638076.1:c.*293C>T	ENSP00000490373.1:n.*293C>T
ENST00000638144.1:n.333C>T
ENST00000646164.1:c.39-8705C>T
ENST00000249806.9:c.690C>T	ENSP00000249806.5:p.Ile230=
ENST00000538696.5:c.786C>T	ENSP00000445770.1:p.Ile262=
ENST00000562767.1:c.84-10758C>T	ENSP00000456336.1:n.84-10758C>T
ENST00000564752.1:c.*74C>T	ENSP00000457822.1:n.*74C>T
ENST00000565471.5:c.231C>T	ENSP00000457384.1:p.Ile77=
ENST00000566347.5:c.501C>T	ENSP00000457783.1:p.Ile167=
ENST00000567060.5:c.*88C>T	ENSP00000454818.1:n.*88C>T
NM_017882.2:c.690C>T	NP_060352.1:p.Ile230=
NM_017882.3:c.690C>T MANE Select	NP_060352.1:p.Ile230=