Canonical Allele Identifier: CA392971736

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500557A>G (hg19) ; chr15:g.68208219A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208219A>G , CM000677.2:g.68208219A>G	GRCh38
NC_000015.9:g.68500557A>G , CM000677.1:g.68500557A>G	GRCh37
NC_000015.8:g.66287611A>G	NCBI36
NG_008764.2:g.53993T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.857T>C MANE Select	ENSP00000249806.5:p.Leu286Pro
ENST00000562767.2:c.84-10591T>C	ENSP00000456336.1:n.84-10591T>C
ENST00000565471.6:c.398T>C	ENSP00000457384.1:p.Leu133Pro
ENST00000635747.1:c.*760T>C	ENSP00000490627.1:n.*760T>C
ENST00000636212.1:c.*527T>C	ENSP00000489851.1:n.*527T>C
ENST00000636674.1:n.1959T>C
ENST00000636964.1:n.2385T>C
ENST00000637054.1:c.198+10317T>C	ENSP00000490807.1:n.198+10317T>C
ENST00000637329.1:c.826T>C
ENST00000637450.1:c.*511T>C	ENSP00000490204.1:n.*511T>C
ENST00000637494.1:c.569T>C	ENSP00000490057.1:p.Leu190Pro
ENST00000637823.1:c.682T>C
ENST00000637888.1:c.198+10317T>C	ENSP00000490546.1:n.198+10317T>C
ENST00000638076.1:c.*460T>C	ENSP00000490373.1:n.*460T>C
ENST00000638144.1:n.500T>C
ENST00000646164.1:c.39-8538T>C
ENST00000249806.9:c.857T>C	ENSP00000249806.5:p.Leu286Pro
ENST00000538696.5:c.953T>C	ENSP00000445770.1:p.Leu318Pro
ENST00000562767.1:c.84-10591T>C	ENSP00000456336.1:n.84-10591T>C
ENST00000565471.5:c.398T>C	ENSP00000457384.1:p.Leu133Pro
ENST00000566347.5:c.668T>C	ENSP00000457783.1:p.Leu223Pro
ENST00000567060.5:c.*255T>C	ENSP00000454818.1:n.*255T>C
NM_017882.2:c.857T>C	NP_060352.1:p.Leu286Pro
NM_017882.3:c.857T>C MANE Select	NP_060352.1:p.Leu286Pro