Canonical Allele Identifier: CA392972842

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502009G>T (hg19) ; chr15:g.68209671G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209671G>T , CM000677.2:g.68209671G>T	GRCh38
NC_000015.9:g.68502009G>T , CM000677.1:g.68502009G>T	GRCh37
NC_000015.8:g.66289063G>T	NCBI36
NG_008764.2:g.52541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.631C>A MANE Select	ENSP00000249806.5:p.Leu211Met
ENST00000562767.2:c.84-12043C>A	ENSP00000456336.1:n.84-12043C>A
ENST00000563917.2:n.473C>A
ENST00000565471.6:c.172C>A	ENSP00000457384.1:p.Leu58Met
ENST00000635747.1:c.*534C>A	ENSP00000490627.1:n.*534C>A
ENST00000636212.1:c.*301C>A	ENSP00000489851.1:n.*301C>A
ENST00000636674.1:n.1733C>A
ENST00000636964.1:n.2159C>A
ENST00000637054.1:c.198+8865C>A	ENSP00000490807.1:n.198+8865C>A
ENST00000637329.1:c.600C>A
ENST00000637450.1:c.*285C>A	ENSP00000490204.1:n.*285C>A
ENST00000637494.1:c.343C>A	ENSP00000490057.1:p.Leu115Met
ENST00000637667.1:c.532C>A	ENSP00000489843.1:p.Leu178Met
ENST00000637823.1:c.456C>A
ENST00000637888.1:c.198+8865C>A	ENSP00000490546.1:n.198+8865C>A
ENST00000638076.1:c.*234C>A	ENSP00000490373.1:n.*234C>A
ENST00000638144.1:n.274C>A
ENST00000646164.1:c.38+8865C>A
ENST00000249806.9:c.631C>A	ENSP00000249806.5:p.Leu211Met
ENST00000538696.5:c.727C>A	ENSP00000445770.1:p.Leu243Met
ENST00000562767.1:c.84-12043C>A	ENSP00000456336.1:n.84-12043C>A
ENST00000563917.1:n.531C>A
ENST00000564752.1:c.*15C>A	ENSP00000457822.1:n.*15C>A
ENST00000565471.5:c.172C>A	ENSP00000457384.1:p.Leu58Met
ENST00000566347.5:c.442C>A	ENSP00000457783.1:p.Leu148Met
ENST00000567060.5:c.*29C>A	ENSP00000454818.1:n.*29C>A
NM_017882.2:c.631C>A	NP_060352.1:p.Leu211Met
XR_931861.1:n.853C>A
NM_017882.3:c.631C>A MANE Select	NP_060352.1:p.Leu211Met