Canonical Allele Identifier: CA392975778

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68510943G>C (hg19) ; chr15:g.68218605G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218605G>C , CM000677.2:g.68218605G>C	GRCh38
NC_000015.9:g.68510943G>C , CM000677.1:g.68510943G>C	GRCh37
NC_000015.8:g.66297997G>C	NCBI36
NG_008764.2:g.43607C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.129C>G MANE Select	ENSP00000249806.5:p.Phe43Leu
ENST00000562767.2:c.83+10897C>G	ENSP00000456336.1:n.83+10897C>G
ENST00000563917.2:n.41-4217C>G
ENST00000565471.6:c.84-8846C>G	ENSP00000457384.1:n.84-8846C>G
ENST00000569336.2:n.38C>G
ENST00000635747.1:c.*32C>G	ENSP00000490627.1:n.*32C>G
ENST00000636020.1:n.261C>G
ENST00000636212.1:c.129C>G	ENSP00000489851.1:p.Phe43Leu
ENST00000636314.1:c.84-4217C>G	ENSP00000490295.1:n.84-4217C>G
ENST00000636876.1:c.*149C>G	ENSP00000489950.1:n.*149C>G
ENST00000637054.1:c.129C>G	ENSP00000490807.1:p.Phe43Leu
ENST00000637223.1:c.*32C>G	ENSP00000490010.1:n.*32C>G
ENST00000637329.1:c.40C>G
ENST00000637450.1:c.84-4217C>G	ENSP00000490204.1:n.84-4217C>G
ENST00000637494.1:c.129C>G	ENSP00000490057.1:p.Phe43Leu
ENST00000637667.1:c.129C>G	ENSP00000489843.1:p.Phe43Leu
ENST00000637823.1:c.55C>G
ENST00000637888.1:c.129C>G	ENSP00000490546.1:p.Phe43Leu
ENST00000638076.1:c.129C>G	ENSP00000490373.1:p.Phe43Leu
ENST00000638144.1:n.31-4217C>G
ENST00000249806.9:c.129C>G	ENSP00000249806.5:p.Phe43Leu
ENST00000538696.5:c.225C>G	ENSP00000445770.1:p.Phe75Leu
ENST00000562767.1:c.83+10897C>G	ENSP00000456336.1:n.83+10897C>G
ENST00000564752.1:c.129C>G	ENSP00000457822.1:p.Phe43Leu
ENST00000564846.1:n.561C>G
ENST00000565471.5:c.84-8846C>G	ENSP00000457384.1:n.84-8846C>G
ENST00000566347.5:c.129C>G	ENSP00000457783.1:p.Phe43Leu
ENST00000567060.5:c.129C>G	ENSP00000454818.1:p.Phe43Leu
ENST00000569336.1:n.215C>G
NM_017882.2:c.129C>G	NP_060352.1:p.Phe43Leu
XR_931861.1:n.232C>G
NM_017882.3:c.129C>G MANE Select	NP_060352.1:p.Phe43Leu