Canonical Allele Identifier: CA392971883

Gene: CLN6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208262G>C , CM000677.2:g.68208262G>C	GRCh38
NC_000015.9:g.68500600G>C , CM000677.1:g.68500600G>C	GRCh37
NC_000015.8:g.66287654G>C	NCBI36
NG_008764.2:g.53950C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017882.3:c.814C>G MANE Select	NP_060352.1:p.Leu272Val
ENST00000249806.11:c.814C>G MANE Select	ENSP00000249806.5:p.Leu272Val
NM_017882.2:c.814C>G	NP_060352.1:p.Leu272Val
ENST00000249806.9:c.814C>G	ENSP00000249806.5:p.Leu272Val
ENST00000538696.5:c.910C>G	ENSP00000445770.1:p.Leu304Val
ENST00000562767.1:c.84-10634C>G	ENSP00000456336.1:n.84-10634C>G
ENST00000562767.2:c.84-10634C>G	ENSP00000456336.1:n.84-10634C>G
ENST00000565471.5:c.355C>G	ENSP00000457384.1:p.Leu119Val
ENST00000565471.6:c.355C>G	ENSP00000457384.1:p.Leu119Val
ENST00000566347.5:c.625C>G	ENSP00000457783.1:p.Leu209Val
ENST00000567060.5:c.*212C>G	ENSP00000454818.1:n.*212C>G
ENST00000635747.1:c.*717C>G	ENSP00000490627.1:n.*717C>G
ENST00000636212.1:c.*484C>G	ENSP00000489851.1:n.*484C>G
ENST00000636674.1:n.1916C>G
ENST00000636964.1:n.2342C>G
ENST00000637054.1:c.198+10274C>G	ENSP00000490807.1:n.198+10274C>G
ENST00000637329.1:c.783C>G
ENST00000637450.1:c.*468C>G	ENSP00000490204.1:n.*468C>G
ENST00000637494.1:c.526C>G	ENSP00000490057.1:p.Leu176Val
ENST00000637667.1:c.715C>G	ENSP00000489843.1:p.Leu239Val
ENST00000637823.1:c.639C>G
ENST00000637888.1:c.198+10274C>G	ENSP00000490546.1:n.198+10274C>G
ENST00000638076.1:c.*417C>G	ENSP00000490373.1:n.*417C>G
ENST00000638144.1:n.457C>G
ENST00000646164.1:c.39-8581C>G