Canonical Allele Identifier: CA392972014

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208321-C-G
• MyVariant Identifiers: chr15:g.68500659C>G (hg19) ; chr15:g.68208321C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208321C>G , CM000677.2:g.68208321C>G	GRCh38
NC_000015.9:g.68500659C>G , CM000677.1:g.68500659C>G	GRCh37
NC_000015.8:g.66287713C>G	NCBI36
NG_008764.2:g.53891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.755G>C MANE Select	ENSP00000249806.5:p.Arg252Pro
ENST00000562767.2:c.84-10693G>C	ENSP00000456336.1:n.84-10693G>C
ENST00000565471.6:c.296G>C	ENSP00000457384.1:p.Arg99Pro
ENST00000635747.1:c.*658G>C	ENSP00000490627.1:n.*658G>C
ENST00000636212.1:c.*425G>C	ENSP00000489851.1:n.*425G>C
ENST00000636674.1:n.1857G>C
ENST00000636964.1:n.2283G>C
ENST00000637054.1:c.198+10215G>C	ENSP00000490807.1:n.198+10215G>C
ENST00000637329.1:c.724G>C
ENST00000637450.1:c.*409G>C	ENSP00000490204.1:n.*409G>C
ENST00000637494.1:c.467G>C	ENSP00000490057.1:p.Arg156Pro
ENST00000637667.1:c.656G>C	ENSP00000489843.1:p.Arg219Pro
ENST00000637823.1:c.580G>C
ENST00000637888.1:c.198+10215G>C	ENSP00000490546.1:n.198+10215G>C
ENST00000638076.1:c.*358G>C	ENSP00000490373.1:n.*358G>C
ENST00000638144.1:n.398G>C
ENST00000646164.1:c.39-8640G>C
ENST00000249806.9:c.755G>C	ENSP00000249806.5:p.Arg252Pro
ENST00000538696.5:c.851G>C	ENSP00000445770.1:p.Arg284Pro
ENST00000562767.1:c.84-10693G>C	ENSP00000456336.1:n.84-10693G>C
ENST00000565471.5:c.296G>C	ENSP00000457384.1:p.Arg99Pro
ENST00000566347.5:c.566G>C	ENSP00000457783.1:p.Arg189Pro
ENST00000567060.5:c.*153G>C	ENSP00000454818.1:n.*153G>C
NM_017882.2:c.755G>C	NP_060352.1:p.Arg252Pro
NM_017882.3:c.755G>C MANE Select	NP_060352.1:p.Arg252Pro