Canonical Allele Identifier: CA392973094

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503604A>T (hg19) ; chr15:g.68211266A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211266A>T , CM000677.2:g.68211266A>T	GRCh38
NC_000015.9:g.68503604A>T , CM000677.1:g.68503604A>T	GRCh37
NC_000015.8:g.66290658A>T	NCBI36
NG_008764.2:g.50946T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.539T>A MANE Select	ENSP00000249806.5:p.Met180Lys
ENST00000562767.2:c.84-13638T>A	ENSP00000456336.1:n.84-13638T>A
ENST00000563917.2:n.381T>A
ENST00000565471.6:c.84-1507T>A	ENSP00000457384.1:n.84-1507T>A
ENST00000635747.1:c.*442T>A	ENSP00000490627.1:n.*442T>A
ENST00000636212.1:c.*209T>A	ENSP00000489851.1:n.*209T>A
ENST00000636314.1:c.235T>A	ENSP00000490295.1:p.Cys79Ser
ENST00000636674.1:n.1641T>A
ENST00000636964.1:n.2067T>A
ENST00000637054.1:c.198+7270T>A	ENSP00000490807.1:n.198+7270T>A
ENST00000637223.1:c.*253T>A	ENSP00000490010.1:n.*253T>A
ENST00000637329.1:c.508T>A
ENST00000637450.1:c.*193T>A	ENSP00000490204.1:n.*193T>A
ENST00000637494.1:c.251T>A	ENSP00000490057.1:p.Met84Lys
ENST00000637667.1:c.440T>A	ENSP00000489843.1:p.Met147Lys
ENST00000637823.1:c.364T>A
ENST00000637888.1:c.198+7270T>A	ENSP00000490546.1:n.198+7270T>A
ENST00000638076.1:c.*142T>A	ENSP00000490373.1:n.*142T>A
ENST00000638144.1:n.182T>A
ENST00000646164.1:c.38+7270T>A
ENST00000249806.9:c.539T>A	ENSP00000249806.5:p.Met180Lys
ENST00000538696.5:c.635T>A	ENSP00000445770.1:p.Met212Lys
ENST00000562767.1:c.84-13638T>A	ENSP00000456336.1:n.84-13638T>A
ENST00000563917.1:n.439T>A
ENST00000564752.1:c.565T>A	ENSP00000457822.1:p.Cys189Ser
ENST00000565471.5:c.84-1507T>A	ENSP00000457384.1:n.84-1507T>A
ENST00000566347.5:c.350T>A	ENSP00000457783.1:p.Met117Lys
ENST00000567060.5:c.298-1546T>A	ENSP00000454818.1:n.298-1546T>A
NM_017882.2:c.539T>A	NP_060352.1:p.Met180Lys
XR_931861.1:n.761T>A
NM_017882.3:c.539T>A MANE Select	NP_060352.1:p.Met180Lys