Canonical Allele Identifier: CA392972830

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502002A>G (hg19) ; chr15:g.68209664A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209664A>G , CM000677.2:g.68209664A>G	GRCh38
NC_000015.9:g.68502002A>G , CM000677.1:g.68502002A>G	GRCh37
NC_000015.8:g.66289056A>G	NCBI36
NG_008764.2:g.52548T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.638T>C MANE Select	ENSP00000249806.5:p.Leu213Pro
ENST00000562767.2:c.84-12036T>C	ENSP00000456336.1:n.84-12036T>C
ENST00000563917.2:n.480T>C
ENST00000565471.6:c.179T>C	ENSP00000457384.1:p.Leu60Pro
ENST00000635747.1:c.*541T>C	ENSP00000490627.1:n.*541T>C
ENST00000636212.1:c.*308T>C	ENSP00000489851.1:n.*308T>C
ENST00000636674.1:n.1740T>C
ENST00000636964.1:n.2166T>C
ENST00000637054.1:c.198+8872T>C	ENSP00000490807.1:n.198+8872T>C
ENST00000637329.1:c.607T>C
ENST00000637450.1:c.*292T>C	ENSP00000490204.1:n.*292T>C
ENST00000637494.1:c.350T>C	ENSP00000490057.1:p.Leu117Pro
ENST00000637667.1:c.539T>C	ENSP00000489843.1:p.Leu180Pro
ENST00000637823.1:c.463T>C
ENST00000637888.1:c.198+8872T>C	ENSP00000490546.1:n.198+8872T>C
ENST00000638076.1:c.*241T>C	ENSP00000490373.1:n.*241T>C
ENST00000638144.1:n.281T>C
ENST00000646164.1:c.38+8872T>C
ENST00000249806.9:c.638T>C	ENSP00000249806.5:p.Leu213Pro
ENST00000538696.5:c.734T>C	ENSP00000445770.1:p.Leu245Pro
ENST00000562767.1:c.84-12036T>C	ENSP00000456336.1:n.84-12036T>C
ENST00000563917.1:n.538T>C
ENST00000564752.1:c.*22T>C	ENSP00000457822.1:n.*22T>C
ENST00000565471.5:c.179T>C	ENSP00000457384.1:p.Leu60Pro
ENST00000566347.5:c.449T>C	ENSP00000457783.1:p.Leu150Pro
ENST00000567060.5:c.*36T>C	ENSP00000454818.1:n.*36T>C
NM_017882.2:c.638T>C	NP_060352.1:p.Leu213Pro
XR_931861.1:n.860T>C
NM_017882.3:c.638T>C MANE Select	NP_060352.1:p.Leu213Pro