Canonical Allele Identifier: CA392972849

Gene: CLN6

Linked Data

• dbSNP Id: rs2093198936
• COSMIC: COSM2257822
• MyVariant Identifiers: chr15:g.68502014G>A (hg19) ; chr15:g.68209676G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209676G>A , CM000677.2:g.68209676G>A	GRCh38
NC_000015.9:g.68502014G>A , CM000677.1:g.68502014G>A	GRCh37
NC_000015.8:g.66289068G>A	NCBI36
NG_008764.2:g.52536C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.626C>T MANE Select	ENSP00000249806.5:p.Pro209Leu
ENST00000562767.2:c.84-12048C>T	ENSP00000456336.1:n.84-12048C>T
ENST00000563917.2:n.468C>T
ENST00000565471.6:c.167C>T	ENSP00000457384.1:p.Pro56Leu
ENST00000635747.1:c.*529C>T	ENSP00000490627.1:n.*529C>T
ENST00000636212.1:c.*296C>T	ENSP00000489851.1:n.*296C>T
ENST00000636314.1:c.*10C>T	ENSP00000490295.1:n.*10C>T
ENST00000636674.1:n.1728C>T
ENST00000636964.1:n.2154C>T
ENST00000637054.1:c.198+8860C>T	ENSP00000490807.1:n.198+8860C>T
ENST00000637329.1:c.595C>T
ENST00000637450.1:c.*280C>T	ENSP00000490204.1:n.*280C>T
ENST00000637494.1:c.338C>T	ENSP00000490057.1:p.Pro113Leu
ENST00000637667.1:c.527C>T	ENSP00000489843.1:p.Pro176Leu
ENST00000637823.1:c.451C>T
ENST00000637888.1:c.198+8860C>T	ENSP00000490546.1:n.198+8860C>T
ENST00000638076.1:c.*229C>T	ENSP00000490373.1:n.*229C>T
ENST00000638144.1:n.269C>T
ENST00000646164.1:c.38+8860C>T
ENST00000249806.9:c.626C>T	ENSP00000249806.5:p.Pro209Leu
ENST00000538696.5:c.722C>T	ENSP00000445770.1:p.Pro241Leu
ENST00000562767.1:c.84-12048C>T	ENSP00000456336.1:n.84-12048C>T
ENST00000563917.1:n.526C>T
ENST00000564752.1:c.*10C>T	ENSP00000457822.1:n.*10C>T
ENST00000565471.5:c.167C>T	ENSP00000457384.1:p.Pro56Leu
ENST00000566347.5:c.437C>T	ENSP00000457783.1:p.Pro146Leu
ENST00000567060.5:c.*24C>T	ENSP00000454818.1:n.*24C>T
NM_017882.2:c.626C>T	NP_060352.1:p.Pro209Leu
XR_931861.1:n.848C>T
NM_017882.3:c.626C>T MANE Select	NP_060352.1:p.Pro209Leu