Canonical Allele Identifier: CA392973007

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209736-A-G
• MyVariant Identifiers: chr15:g.68502074A>G (hg19) ; chr15:g.68209736A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209736A>G , CM000677.2:g.68209736A>G	GRCh38
NC_000015.9:g.68502074A>G , CM000677.1:g.68502074A>G	GRCh37
NC_000015.8:g.66289128A>G	NCBI36
NG_008764.2:g.52476T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.566T>C MANE Select	ENSP00000249806.5:p.Leu189Pro
ENST00000562767.2:c.84-12108T>C	ENSP00000456336.1:n.84-12108T>C
ENST00000563917.2:n.408T>C
ENST00000565471.6:c.107T>C	ENSP00000457384.1:p.Leu36Pro
ENST00000635747.1:c.*469T>C	ENSP00000490627.1:n.*469T>C
ENST00000636212.1:c.*236T>C	ENSP00000489851.1:n.*236T>C
ENST00000636314.1:c.262T>C	ENSP00000490295.1:p.Ser88Pro
ENST00000636674.1:n.1668T>C
ENST00000636964.1:n.2094T>C
ENST00000637054.1:c.198+8800T>C	ENSP00000490807.1:n.198+8800T>C
ENST00000637223.1:c.*280T>C	ENSP00000490010.1:n.*280T>C
ENST00000637329.1:c.535T>C
ENST00000637450.1:c.*220T>C	ENSP00000490204.1:n.*220T>C
ENST00000637494.1:c.278T>C	ENSP00000490057.1:p.Leu93Pro
ENST00000637667.1:c.467T>C	ENSP00000489843.1:p.Leu156Pro
ENST00000637823.1:c.391T>C
ENST00000637888.1:c.198+8800T>C	ENSP00000490546.1:n.198+8800T>C
ENST00000638076.1:c.*169T>C	ENSP00000490373.1:n.*169T>C
ENST00000638144.1:n.209T>C
ENST00000646164.1:c.38+8800T>C
ENST00000249806.9:c.566T>C	ENSP00000249806.5:p.Leu189Pro
ENST00000538696.5:c.662T>C	ENSP00000445770.1:p.Leu221Pro
ENST00000562767.1:c.84-12108T>C	ENSP00000456336.1:n.84-12108T>C
ENST00000563917.1:n.466T>C
ENST00000564752.1:c.592T>C	ENSP00000457822.1:p.Ser198Pro
ENST00000565471.5:c.107T>C	ENSP00000457384.1:p.Leu36Pro
ENST00000566347.5:c.377T>C	ENSP00000457783.1:p.Leu126Pro
ENST00000567060.5:c.298-16T>C	ENSP00000454818.1:n.298-16T>C
NM_017882.2:c.566T>C	NP_060352.1:p.Leu189Pro
XR_931861.1:n.788T>C
NM_017882.3:c.566T>C MANE Select	NP_060352.1:p.Leu189Pro