Canonical Allele Identifier: CA392971964

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500635A>G (hg19) ; chr15:g.68208297A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208297A>G , CM000677.2:g.68208297A>G	GRCh38
NC_000015.9:g.68500635A>G , CM000677.1:g.68500635A>G	GRCh37
NC_000015.8:g.66287689A>G	NCBI36
NG_008764.2:g.53915T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.779T>C MANE Select	ENSP00000249806.5:p.Leu260Pro
ENST00000562767.2:c.84-10669T>C	ENSP00000456336.1:n.84-10669T>C
ENST00000565471.6:c.320T>C	ENSP00000457384.1:p.Leu107Pro
ENST00000635747.1:c.*682T>C	ENSP00000490627.1:n.*682T>C
ENST00000636212.1:c.*449T>C	ENSP00000489851.1:n.*449T>C
ENST00000636674.1:n.1881T>C
ENST00000636964.1:n.2307T>C
ENST00000637054.1:c.198+10239T>C	ENSP00000490807.1:n.198+10239T>C
ENST00000637329.1:c.748T>C
ENST00000637450.1:c.*433T>C	ENSP00000490204.1:n.*433T>C
ENST00000637494.1:c.491T>C	ENSP00000490057.1:p.Leu164Pro
ENST00000637667.1:c.680T>C	ENSP00000489843.1:p.Leu227Pro
ENST00000637823.1:c.604T>C
ENST00000637888.1:c.198+10239T>C	ENSP00000490546.1:n.198+10239T>C
ENST00000638076.1:c.*382T>C	ENSP00000490373.1:n.*382T>C
ENST00000638144.1:n.422T>C
ENST00000646164.1:c.39-8616T>C
ENST00000249806.9:c.779T>C	ENSP00000249806.5:p.Leu260Pro
ENST00000538696.5:c.875T>C	ENSP00000445770.1:p.Leu292Pro
ENST00000562767.1:c.84-10669T>C	ENSP00000456336.1:n.84-10669T>C
ENST00000565471.5:c.320T>C	ENSP00000457384.1:p.Leu107Pro
ENST00000566347.5:c.590T>C	ENSP00000457783.1:p.Leu197Pro
ENST00000567060.5:c.*177T>C	ENSP00000454818.1:n.*177T>C
NM_017882.2:c.779T>C	NP_060352.1:p.Leu260Pro
NM_017882.3:c.779T>C MANE Select	NP_060352.1:p.Leu260Pro