Canonical Allele Identifier: CA392971916

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500611A>G (hg19) ; chr15:g.68208273A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208273A>G , CM000677.2:g.68208273A>G	GRCh38
NC_000015.9:g.68500611A>G , CM000677.1:g.68500611A>G	GRCh37
NC_000015.8:g.66287665A>G	NCBI36
NG_008764.2:g.53939T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.803T>C MANE Select	ENSP00000249806.5:p.Leu268Pro
ENST00000562767.2:c.84-10645T>C	ENSP00000456336.1:n.84-10645T>C
ENST00000565471.6:c.344T>C	ENSP00000457384.1:p.Leu115Pro
ENST00000635747.1:c.*706T>C	ENSP00000490627.1:n.*706T>C
ENST00000636212.1:c.*473T>C	ENSP00000489851.1:n.*473T>C
ENST00000636674.1:n.1905T>C
ENST00000636964.1:n.2331T>C
ENST00000637054.1:c.198+10263T>C	ENSP00000490807.1:n.198+10263T>C
ENST00000637329.1:c.772T>C
ENST00000637450.1:c.*457T>C	ENSP00000490204.1:n.*457T>C
ENST00000637494.1:c.515T>C	ENSP00000490057.1:p.Leu172Pro
ENST00000637667.1:c.704T>C	ENSP00000489843.1:p.Leu235Pro
ENST00000637823.1:c.628T>C
ENST00000637888.1:c.198+10263T>C	ENSP00000490546.1:n.198+10263T>C
ENST00000638076.1:c.*406T>C	ENSP00000490373.1:n.*406T>C
ENST00000638144.1:n.446T>C
ENST00000646164.1:c.39-8592T>C
ENST00000249806.9:c.803T>C	ENSP00000249806.5:p.Leu268Pro
ENST00000538696.5:c.899T>C	ENSP00000445770.1:p.Leu300Pro
ENST00000562767.1:c.84-10645T>C	ENSP00000456336.1:n.84-10645T>C
ENST00000565471.5:c.344T>C	ENSP00000457384.1:p.Leu115Pro
ENST00000566347.5:c.614T>C	ENSP00000457783.1:p.Leu205Pro
ENST00000567060.5:c.*201T>C	ENSP00000454818.1:n.*201T>C
NM_017882.2:c.803T>C	NP_060352.1:p.Leu268Pro
NM_017882.3:c.803T>C MANE Select	NP_060352.1:p.Leu268Pro