Canonical Allele Identifier: CA392971996

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500650A>G (hg19) ; chr15:g.68208312A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208312A>G , CM000677.2:g.68208312A>G	GRCh38
NC_000015.9:g.68500650A>G , CM000677.1:g.68500650A>G	GRCh37
NC_000015.8:g.66287704A>G	NCBI36
NG_008764.2:g.53900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.764T>C MANE Select	ENSP00000249806.5:p.Leu255Pro
ENST00000562767.2:c.84-10684T>C	ENSP00000456336.1:n.84-10684T>C
ENST00000565471.6:c.305T>C	ENSP00000457384.1:p.Leu102Pro
ENST00000635747.1:c.*667T>C	ENSP00000490627.1:n.*667T>C
ENST00000636212.1:c.*434T>C	ENSP00000489851.1:n.*434T>C
ENST00000636674.1:n.1866T>C
ENST00000636964.1:n.2292T>C
ENST00000637054.1:c.198+10224T>C	ENSP00000490807.1:n.198+10224T>C
ENST00000637329.1:c.733T>C
ENST00000637450.1:c.*418T>C	ENSP00000490204.1:n.*418T>C
ENST00000637494.1:c.476T>C	ENSP00000490057.1:p.Leu159Pro
ENST00000637667.1:c.665T>C	ENSP00000489843.1:p.Leu222Pro
ENST00000637823.1:c.589T>C
ENST00000637888.1:c.198+10224T>C	ENSP00000490546.1:n.198+10224T>C
ENST00000638076.1:c.*367T>C	ENSP00000490373.1:n.*367T>C
ENST00000638144.1:n.407T>C
ENST00000646164.1:c.39-8631T>C
ENST00000249806.9:c.764T>C	ENSP00000249806.5:p.Leu255Pro
ENST00000538696.5:c.860T>C	ENSP00000445770.1:p.Leu287Pro
ENST00000562767.1:c.84-10684T>C	ENSP00000456336.1:n.84-10684T>C
ENST00000565471.5:c.305T>C	ENSP00000457384.1:p.Leu102Pro
ENST00000566347.5:c.575T>C	ENSP00000457783.1:p.Leu192Pro
ENST00000567060.5:c.*162T>C	ENSP00000454818.1:n.*162T>C
NM_017882.2:c.764T>C	NP_060352.1:p.Leu255Pro
NM_017882.3:c.764T>C MANE Select	NP_060352.1:p.Leu255Pro