Canonical Allele Identifier: CA392973164

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503629A>T (hg19) ; chr15:g.68211291A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211291A>T , CM000677.2:g.68211291A>T	GRCh38
NC_000015.9:g.68503629A>T , CM000677.1:g.68503629A>T	GRCh37
NC_000015.8:g.66290683A>T	NCBI36
NG_008764.2:g.50921T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.514T>A MANE Select	ENSP00000249806.5:p.Tyr172Asn
ENST00000562767.2:c.84-13663T>A	ENSP00000456336.1:n.84-13663T>A
ENST00000563917.2:n.356T>A
ENST00000565471.6:c.84-1532T>A	ENSP00000457384.1:n.84-1532T>A
ENST00000635747.1:c.*417T>A	ENSP00000490627.1:n.*417T>A
ENST00000636212.1:c.*184T>A	ENSP00000489851.1:n.*184T>A
ENST00000636314.1:c.210T>A	ENSP00000490295.1:p.Ile70=
ENST00000636674.1:n.1616T>A
ENST00000636964.1:n.2042T>A
ENST00000637054.1:c.198+7245T>A	ENSP00000490807.1:n.198+7245T>A
ENST00000637223.1:c.*228T>A	ENSP00000490010.1:n.*228T>A
ENST00000637329.1:c.483T>A
ENST00000637450.1:c.*168T>A	ENSP00000490204.1:n.*168T>A
ENST00000637494.1:c.226T>A	ENSP00000490057.1:p.Tyr76Asn
ENST00000637667.1:c.415T>A	ENSP00000489843.1:p.Tyr139Asn
ENST00000637823.1:c.339T>A
ENST00000637888.1:c.198+7245T>A	ENSP00000490546.1:n.198+7245T>A
ENST00000638076.1:c.*117T>A	ENSP00000490373.1:n.*117T>A
ENST00000638144.1:n.157T>A
ENST00000646164.1:c.38+7245T>A
ENST00000249806.9:c.514T>A	ENSP00000249806.5:p.Tyr172Asn
ENST00000538696.5:c.610T>A	ENSP00000445770.1:p.Tyr204Asn
ENST00000562767.1:c.84-13663T>A	ENSP00000456336.1:n.84-13663T>A
ENST00000563917.1:n.414T>A
ENST00000564752.1:c.540T>A	ENSP00000457822.1:p.Ile180=
ENST00000565471.5:c.84-1532T>A	ENSP00000457384.1:n.84-1532T>A
ENST00000566347.5:c.325T>A	ENSP00000457783.1:p.Tyr109Asn
ENST00000567060.5:c.298-1571T>A	ENSP00000454818.1:n.298-1571T>A
NM_017882.2:c.514T>A	NP_060352.1:p.Tyr172Asn
XR_931861.1:n.736T>A
NM_017882.3:c.514T>A MANE Select	NP_060352.1:p.Tyr172Asn