Canonical Allele Identifier: CA392973047

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502089G>T (hg19) ; chr15:g.68209751G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209751G>T , CM000677.2:g.68209751G>T	GRCh38
NC_000015.9:g.68502089G>T , CM000677.1:g.68502089G>T	GRCh37
NC_000015.8:g.66289143G>T	NCBI36
NG_008764.2:g.52461C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.551C>A MANE Select	ENSP00000249806.5:p.Pro184His
ENST00000562767.2:c.84-12123C>A	ENSP00000456336.1:n.84-12123C>A
ENST00000563917.2:n.393C>A
ENST00000565471.6:c.92C>A	ENSP00000457384.1:p.Pro31His
ENST00000635747.1:c.*454C>A	ENSP00000490627.1:n.*454C>A
ENST00000636212.1:c.*221C>A	ENSP00000489851.1:n.*221C>A
ENST00000636314.1:c.247C>A	ENSP00000490295.1:p.Pro83Thr
ENST00000636674.1:n.1653C>A
ENST00000636964.1:n.2079C>A
ENST00000637054.1:c.198+8785C>A	ENSP00000490807.1:n.198+8785C>A
ENST00000637223.1:c.*265C>A	ENSP00000490010.1:n.*265C>A
ENST00000637329.1:c.520C>A
ENST00000637450.1:c.*205C>A	ENSP00000490204.1:n.*205C>A
ENST00000637494.1:c.263C>A	ENSP00000490057.1:p.Pro88His
ENST00000637667.1:c.452C>A	ENSP00000489843.1:p.Pro151His
ENST00000637823.1:c.376C>A
ENST00000637888.1:c.198+8785C>A	ENSP00000490546.1:n.198+8785C>A
ENST00000638076.1:c.*154C>A	ENSP00000490373.1:n.*154C>A
ENST00000638144.1:n.194C>A
ENST00000646164.1:c.38+8785C>A
ENST00000249806.9:c.551C>A	ENSP00000249806.5:p.Pro184His
ENST00000538696.5:c.647C>A	ENSP00000445770.1:p.Pro216His
ENST00000562767.1:c.84-12123C>A	ENSP00000456336.1:n.84-12123C>A
ENST00000563917.1:n.451C>A
ENST00000564752.1:c.577C>A	ENSP00000457822.1:p.Pro193Thr
ENST00000565471.5:c.92C>A	ENSP00000457384.1:p.Pro31His
ENST00000566347.5:c.362C>A	ENSP00000457783.1:p.Pro121His
ENST00000567060.5:c.298-31C>A	ENSP00000454818.1:n.298-31C>A
NM_017882.2:c.551C>A	NP_060352.1:p.Pro184His
XR_931861.1:n.773C>A
NM_017882.3:c.551C>A MANE Select	NP_060352.1:p.Pro184His