Canonical Allele Identifier: CA392971893

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500602A>G (hg19) ; chr15:g.68208264A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208264A>G , CM000677.2:g.68208264A>G	GRCh38
NC_000015.9:g.68500602A>G , CM000677.1:g.68500602A>G	GRCh37
NC_000015.8:g.66287656A>G	NCBI36
NG_008764.2:g.53948T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.812T>C MANE Select	ENSP00000249806.5:p.Leu271Ser
ENST00000562767.2:c.84-10636T>C	ENSP00000456336.1:n.84-10636T>C
ENST00000565471.6:c.353T>C	ENSP00000457384.1:p.Leu118Ser
ENST00000635747.1:c.*715T>C	ENSP00000490627.1:n.*715T>C
ENST00000636212.1:c.*482T>C	ENSP00000489851.1:n.*482T>C
ENST00000636674.1:n.1914T>C
ENST00000636964.1:n.2340T>C
ENST00000637054.1:c.198+10272T>C	ENSP00000490807.1:n.198+10272T>C
ENST00000637329.1:c.781T>C
ENST00000637450.1:c.*466T>C	ENSP00000490204.1:n.*466T>C
ENST00000637494.1:c.524T>C	ENSP00000490057.1:p.Leu175Ser
ENST00000637667.1:c.713T>C	ENSP00000489843.1:p.Leu238Ser
ENST00000637823.1:c.637T>C
ENST00000637888.1:c.198+10272T>C	ENSP00000490546.1:n.198+10272T>C
ENST00000638076.1:c.*415T>C	ENSP00000490373.1:n.*415T>C
ENST00000638144.1:n.455T>C
ENST00000646164.1:c.39-8583T>C
ENST00000249806.9:c.812T>C	ENSP00000249806.5:p.Leu271Ser
ENST00000538696.5:c.908T>C	ENSP00000445770.1:p.Leu303Ser
ENST00000562767.1:c.84-10636T>C	ENSP00000456336.1:n.84-10636T>C
ENST00000565471.5:c.353T>C	ENSP00000457384.1:p.Leu118Ser
ENST00000566347.5:c.623T>C	ENSP00000457783.1:p.Leu208Ser
ENST00000567060.5:c.*210T>C	ENSP00000454818.1:n.*210T>C
NM_017882.2:c.812T>C	NP_060352.1:p.Leu271Ser
NM_017882.3:c.812T>C MANE Select	NP_060352.1:p.Leu271Ser