Canonical Allele Identifier: CA392973519

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68504114C>A (hg19) ; chr15:g.68211776C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211776C>A , CM000677.2:g.68211776C>A	GRCh38
NC_000015.9:g.68504114C>A , CM000677.1:g.68504114C>A	GRCh37
NC_000015.8:g.66291168C>A	NCBI36
NG_008764.2:g.50436G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.385G>T MANE Select	ENSP00000249806.5:p.Val129Leu
ENST00000562767.2:c.84-14148G>T	ENSP00000456336.1:n.84-14148G>T
ENST00000563917.2:n.227G>T
ENST00000565471.6:c.84-2017G>T	ENSP00000457384.1:n.84-2017G>T
ENST00000635747.1:c.*288G>T	ENSP00000490627.1:n.*288G>T
ENST00000636212.1:c.298-35G>T	ENSP00000489851.1:n.298-35G>T
ENST00000636314.1:c.183-458G>T	ENSP00000490295.1:n.183-458G>T
ENST00000636674.1:n.1368G>T
ENST00000636964.1:n.1557G>T
ENST00000637054.1:c.198+6760G>T	ENSP00000490807.1:n.198+6760G>T
ENST00000637223.1:c.*201-458G>T	ENSP00000490010.1:n.*201-458G>T
ENST00000637329.1:c.354G>T
ENST00000637450.1:c.*39G>T	ENSP00000490204.1:n.*39G>T
ENST00000637494.1:c.199-458G>T	ENSP00000490057.1:n.199-458G>T
ENST00000637667.1:c.286G>T	ENSP00000489843.1:p.Val96Leu
ENST00000637823.1:c.224-133G>T
ENST00000637888.1:c.198+6760G>T	ENSP00000490546.1:n.198+6760G>T
ENST00000638076.1:c.385G>T	ENSP00000490373.1:p.Val129Leu
ENST00000638144.1:n.130-458G>T
ENST00000646164.1:c.38+6760G>T
ENST00000249806.9:c.385G>T	ENSP00000249806.5:p.Val129Leu
ENST00000538696.5:c.481G>T	ENSP00000445770.1:p.Val161Leu
ENST00000562767.1:c.84-14148G>T	ENSP00000456336.1:n.84-14148G>T
ENST00000563917.1:n.166G>T
ENST00000564752.1:c.385G>T	ENSP00000457822.1:p.Val129Leu
ENST00000565471.5:c.84-2017G>T	ENSP00000457384.1:n.84-2017G>T
ENST00000566347.5:c.298-458G>T	ENSP00000457783.1:n.298-458G>T
ENST00000567060.5:c.298-2056G>T	ENSP00000454818.1:n.298-2056G>T
NM_017882.2:c.385G>T	NP_060352.1:p.Val129Leu
XR_931861.1:n.488G>T
NM_017882.3:c.385G>T MANE Select	NP_060352.1:p.Val129Leu