Canonical Allele Identifier: CA392971579

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500513C>G (hg19) ; chr15:g.68208175C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208175C>G , CM000677.2:g.68208175C>G	GRCh38
NC_000015.9:g.68500513C>G , CM000677.1:g.68500513C>G	GRCh37
NC_000015.8:g.66287567C>G	NCBI36
NG_008764.2:g.54037G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.901G>C MANE Select	ENSP00000249806.5:p.Ala301Pro
ENST00000562767.2:c.84-10547G>C	ENSP00000456336.1:n.84-10547G>C
ENST00000565471.6:c.442G>C	ENSP00000457384.1:p.Ala148Pro
ENST00000635747.1:c.*804G>C	ENSP00000490627.1:n.*804G>C
ENST00000636212.1:c.*571G>C	ENSP00000489851.1:n.*571G>C
ENST00000636674.1:n.2003G>C
ENST00000636964.1:n.2429G>C
ENST00000637054.1:c.198+10361G>C	ENSP00000490807.1:n.198+10361G>C
ENST00000637329.1:c.870G>C
ENST00000637494.1:c.613G>C	ENSP00000490057.1:p.Ala205Pro
ENST00000637888.1:c.198+10361G>C	ENSP00000490546.1:n.198+10361G>C
ENST00000638076.1:c.*504G>C	ENSP00000490373.1:n.*504G>C
ENST00000638144.1:n.544G>C
ENST00000646164.1:c.39-8494G>C
ENST00000249806.9:c.901G>C	ENSP00000249806.5:p.Ala301Pro
ENST00000538696.5:c.997G>C	ENSP00000445770.1:p.Ala333Pro
ENST00000562767.1:c.84-10547G>C	ENSP00000456336.1:n.84-10547G>C
ENST00000565471.5:c.442G>C	ENSP00000457384.1:p.Ala148Pro
ENST00000566347.5:c.712G>C	ENSP00000457783.1:p.Ala238Pro
ENST00000567060.5:c.*299G>C	ENSP00000454818.1:n.*299G>C
NM_017882.2:c.901G>C	NP_060352.1:p.Ala301Pro
NM_017882.3:c.901G>C MANE Select	NP_060352.1:p.Ala301Pro