Canonical Allele Identifier: CA392971815

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500578C>G (hg19) ; chr15:g.68208240C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208240C>G , CM000677.2:g.68208240C>G	GRCh38
NC_000015.9:g.68500578C>G , CM000677.1:g.68500578C>G	GRCh37
NC_000015.8:g.66287632C>G	NCBI36
NG_008764.2:g.53972G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.836G>C MANE Select	ENSP00000249806.5:p.Trp279Ser
ENST00000562767.2:c.84-10612G>C	ENSP00000456336.1:n.84-10612G>C
ENST00000565471.6:c.377G>C	ENSP00000457384.1:p.Trp126Ser
ENST00000635747.1:c.*739G>C	ENSP00000490627.1:n.*739G>C
ENST00000636212.1:c.*506G>C	ENSP00000489851.1:n.*506G>C
ENST00000636674.1:n.1938G>C
ENST00000636964.1:n.2364G>C
ENST00000637054.1:c.198+10296G>C	ENSP00000490807.1:n.198+10296G>C
ENST00000637329.1:c.805G>C
ENST00000637450.1:c.*490G>C	ENSP00000490204.1:n.*490G>C
ENST00000637494.1:c.548G>C	ENSP00000490057.1:p.Trp183Ser
ENST00000637667.1:c.737G>C	ENSP00000489843.1:p.Trp246Ser
ENST00000637823.1:c.661G>C
ENST00000637888.1:c.198+10296G>C	ENSP00000490546.1:n.198+10296G>C
ENST00000638076.1:c.*439G>C	ENSP00000490373.1:n.*439G>C
ENST00000638144.1:n.479G>C
ENST00000646164.1:c.39-8559G>C
ENST00000249806.9:c.836G>C	ENSP00000249806.5:p.Trp279Ser
ENST00000538696.5:c.932G>C	ENSP00000445770.1:p.Trp311Ser
ENST00000562767.1:c.84-10612G>C	ENSP00000456336.1:n.84-10612G>C
ENST00000565471.5:c.377G>C	ENSP00000457384.1:p.Trp126Ser
ENST00000566347.5:c.647G>C	ENSP00000457783.1:p.Trp216Ser
ENST00000567060.5:c.*234G>C	ENSP00000454818.1:n.*234G>C
NM_017882.2:c.836G>C	NP_060352.1:p.Trp279Ser
NM_017882.3:c.836G>C MANE Select	NP_060352.1:p.Trp279Ser