Canonical Allele Identifier: CA392972841

Gene: CLN6

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.631C>G MANE Select	ENSP00000249806.5:p.Leu211Val
ENST00000562767.2:c.84-12043C>G	ENSP00000456336.1:n.84-12043C>G
ENST00000563917.2:n.473C>G
ENST00000565471.6:c.172C>G	ENSP00000457384.1:p.Leu58Val
ENST00000635747.1:c.*534C>G	ENSP00000490627.1:n.*534C>G
ENST00000636212.1:c.*301C>G	ENSP00000489851.1:n.*301C>G
ENST00000636674.1:n.1733C>G
ENST00000636964.1:n.2159C>G
ENST00000637054.1:c.198+8865C>G	ENSP00000490807.1:n.198+8865C>G
ENST00000637329.1:c.600C>G
ENST00000637450.1:c.*285C>G	ENSP00000490204.1:n.*285C>G
ENST00000637494.1:c.343C>G	ENSP00000490057.1:p.Leu115Val
ENST00000637667.1:c.532C>G	ENSP00000489843.1:p.Leu178Val
ENST00000637823.1:c.456C>G
ENST00000637888.1:c.198+8865C>G	ENSP00000490546.1:n.198+8865C>G
ENST00000638076.1:c.*234C>G	ENSP00000490373.1:n.*234C>G
ENST00000638144.1:n.274C>G
ENST00000646164.1:c.38+8865C>G
ENST00000249806.9:c.631C>G	ENSP00000249806.5:p.Leu211Val
ENST00000538696.5:c.727C>G	ENSP00000445770.1:p.Leu243Val
ENST00000562767.1:c.84-12043C>G	ENSP00000456336.1:n.84-12043C>G
ENST00000563917.1:n.531C>G
ENST00000564752.1:c.*15C>G	ENSP00000457822.1:n.*15C>G
ENST00000565471.5:c.172C>G	ENSP00000457384.1:p.Leu58Val
ENST00000566347.5:c.442C>G	ENSP00000457783.1:p.Leu148Val
ENST00000567060.5:c.*29C>G	ENSP00000454818.1:n.*29C>G
NM_017882.2:c.631C>G	NP_060352.1:p.Leu211Val
XR_931861.1:n.853C>G
NM_017882.3:c.631C>G MANE Select	NP_060352.1:p.Leu211Val