Canonical Allele Identifier: CA392975536

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68510894A>C (hg19) ; chr15:g.68218556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218556A>C , CM000677.2:g.68218556A>C	GRCh38
NC_000015.9:g.68510894A>C , CM000677.1:g.68510894A>C	GRCh37
NC_000015.8:g.66297948A>C	NCBI36
NG_008764.2:g.43656T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.178T>G MANE Select	ENSP00000249806.5:p.Phe60Val
ENST00000562767.2:c.83+10946T>G	ENSP00000456336.1:n.83+10946T>G
ENST00000563917.2:n.41-4168T>G
ENST00000565471.6:c.84-8797T>G	ENSP00000457384.1:n.84-8797T>G
ENST00000569336.2:n.87T>G
ENST00000635747.1:c.*81T>G	ENSP00000490627.1:n.*81T>G
ENST00000636020.1:n.310T>G
ENST00000636212.1:c.178T>G	ENSP00000489851.1:p.Phe60Val
ENST00000636314.1:c.84-4168T>G	ENSP00000490295.1:n.84-4168T>G
ENST00000637054.1:c.178T>G	ENSP00000490807.1:p.Phe60Val
ENST00000637223.1:c.*81T>G	ENSP00000490010.1:n.*81T>G
ENST00000637329.1:c.89T>G
ENST00000637450.1:c.84-4168T>G	ENSP00000490204.1:n.84-4168T>G
ENST00000637494.1:c.178T>G	ENSP00000490057.1:p.Phe60Val
ENST00000637667.1:c.178T>G	ENSP00000489843.1:p.Phe60Val
ENST00000637823.1:c.104T>G
ENST00000637888.1:c.178T>G	ENSP00000490546.1:p.Phe60Val
ENST00000638076.1:c.178T>G	ENSP00000490373.1:p.Phe60Val
ENST00000638144.1:n.31-4168T>G
ENST00000646164.1:c.18T>G
ENST00000249806.9:c.178T>G	ENSP00000249806.5:p.Phe60Val
ENST00000538696.5:c.274T>G	ENSP00000445770.1:p.Phe92Val
ENST00000562767.1:c.83+10946T>G	ENSP00000456336.1:n.83+10946T>G
ENST00000564752.1:c.178T>G	ENSP00000457822.1:p.Phe60Val
ENST00000564846.1:n.610T>G
ENST00000565471.5:c.84-8797T>G	ENSP00000457384.1:n.84-8797T>G
ENST00000566347.5:c.178T>G	ENSP00000457783.1:p.Phe60Val
ENST00000567060.5:c.178T>G	ENSP00000454818.1:p.Phe60Val
ENST00000569336.1:n.264T>G
NM_017882.2:c.178T>G	NP_060352.1:p.Phe60Val
XR_931861.1:n.281T>G
NM_017882.3:c.178T>G MANE Select	NP_060352.1:p.Phe60Val