Canonical Allele Identifier: CA392978407

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2822545
• ClinVar RCV Id: RCV003648265
• MyVariant Identifiers: chr15:g.68521922T>G (hg19) ; chr15:g.68229584T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68229584T>G , CM000677.2:g.68229584T>G	GRCh38
NC_000015.9:g.68521922T>G , CM000677.1:g.68521922T>G	GRCh37
NC_000015.8:g.66308976T>G	NCBI36
NG_008764.2:g.32628A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.1A>C MANE Select	ENSP00000249806.5:p.Met1Leu
ENST00000562767.2:c.1A>C	ENSP00000456336.1:p.Met1Leu
ENST00000563917.2:n.41-15196A>C
ENST00000565471.6:c.1A>C	ENSP00000457384.1:p.Met1Leu
ENST00000635747.1:c.173-10934A>C	ENSP00000490627.1:n.173-10934A>C
ENST00000636020.1:n.133A>C
ENST00000636212.1:c.1A>C	ENSP00000489851.1:p.Met1Leu
ENST00000636314.1:c.1A>C	ENSP00000490295.1:p.Met1Leu
ENST00000636876.1:c.*104-10934A>C	ENSP00000489950.1:n.*104-10934A>C
ENST00000637054.1:c.1A>C	ENSP00000490807.1:p.Met1Leu
ENST00000637223.1:c.173-10934A>C	ENSP00000490010.1:n.173-10934A>C
ENST00000637450.1:c.1A>C	ENSP00000490204.1:p.Met1Leu
ENST00000637494.1:c.1A>C	ENSP00000490057.1:p.Met1Leu
ENST00000637667.1:c.1A>C	ENSP00000489843.1:p.Met1Leu
ENST00000637888.1:c.1A>C	ENSP00000490546.1:p.Met1Leu
ENST00000638076.1:c.1A>C	ENSP00000490373.1:p.Met1Leu
ENST00000638144.1:n.31-15196A>C
ENST00000249806.9:c.1A>C	ENSP00000249806.5:p.Met1Leu
ENST00000538696.5:c.180-10934A>C	ENSP00000445770.1:n.180-10934A>C
ENST00000562767.1:c.1A>C	ENSP00000456336.1:p.Met1Leu
ENST00000564752.1:c.1A>C	ENSP00000457822.1:p.Met1Leu
ENST00000564846.1:n.516-10934A>C
ENST00000565471.5:c.1A>C	ENSP00000457384.1:p.Met1Leu
ENST00000566347.5:c.1A>C	ENSP00000457783.1:p.Met1Leu
ENST00000567060.5:c.1A>C	ENSP00000454818.1:p.Met1Leu
ENST00000569336.1:n.87A>C
NM_017882.2:c.1A>C	NP_060352.1:p.Met1Leu
XR_931861.1:n.104A>C
NM_017882.3:c.1A>C MANE Select	NP_060352.1:p.Met1Leu