Canonical Allele Identifier: CA392971865

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500594C>G (hg19) ; chr15:g.68208256C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208256C>G , CM000677.2:g.68208256C>G	GRCh38
NC_000015.9:g.68500594C>G , CM000677.1:g.68500594C>G	GRCh37
NC_000015.8:g.66287648C>G	NCBI36
NG_008764.2:g.53956G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.820G>C MANE Select	ENSP00000249806.5:p.Ala274Pro
ENST00000562767.2:c.84-10628G>C	ENSP00000456336.1:n.84-10628G>C
ENST00000565471.6:c.361G>C	ENSP00000457384.1:p.Ala121Pro
ENST00000635747.1:c.*723G>C	ENSP00000490627.1:n.*723G>C
ENST00000636212.1:c.*490G>C	ENSP00000489851.1:n.*490G>C
ENST00000636674.1:n.1922G>C
ENST00000636964.1:n.2348G>C
ENST00000637054.1:c.198+10280G>C	ENSP00000490807.1:n.198+10280G>C
ENST00000637329.1:c.789G>C
ENST00000637450.1:c.*474G>C	ENSP00000490204.1:n.*474G>C
ENST00000637494.1:c.532G>C	ENSP00000490057.1:p.Ala178Pro
ENST00000637667.1:c.721G>C	ENSP00000489843.1:p.Ala241Pro
ENST00000637823.1:c.645G>C
ENST00000637888.1:c.198+10280G>C	ENSP00000490546.1:n.198+10280G>C
ENST00000638076.1:c.*423G>C	ENSP00000490373.1:n.*423G>C
ENST00000638144.1:n.463G>C
ENST00000646164.1:c.39-8575G>C
ENST00000249806.9:c.820G>C	ENSP00000249806.5:p.Ala274Pro
ENST00000538696.5:c.916G>C	ENSP00000445770.1:p.Ala306Pro
ENST00000562767.1:c.84-10628G>C	ENSP00000456336.1:n.84-10628G>C
ENST00000565471.5:c.361G>C	ENSP00000457384.1:p.Ala121Pro
ENST00000566347.5:c.631G>C	ENSP00000457783.1:p.Ala211Pro
ENST00000567060.5:c.*218G>C	ENSP00000454818.1:n.*218G>C
NM_017882.2:c.820G>C	NP_060352.1:p.Ala274Pro
NM_017882.3:c.820G>C MANE Select	NP_060352.1:p.Ala274Pro