Canonical Allele Identifier: CA392972917

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502041G>A (hg19) ; chr15:g.68209703G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209703G>A , CM000677.2:g.68209703G>A	GRCh38
NC_000015.9:g.68502041G>A , CM000677.1:g.68502041G>A	GRCh37
NC_000015.8:g.66289095G>A	NCBI36
NG_008764.2:g.52509C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.599C>T MANE Select	ENSP00000249806.5:p.Ser200Phe
ENST00000562767.2:c.84-12075C>T	ENSP00000456336.1:n.84-12075C>T
ENST00000563917.2:n.441C>T
ENST00000565471.6:c.140C>T	ENSP00000457384.1:p.Ser47Phe
ENST00000635747.1:c.*502C>T	ENSP00000490627.1:n.*502C>T
ENST00000636212.1:c.*269C>T	ENSP00000489851.1:n.*269C>T
ENST00000636314.1:c.295C>T	ENSP00000490295.1:p.Leu99=
ENST00000636674.1:n.1701C>T
ENST00000636964.1:n.2127C>T
ENST00000637054.1:c.198+8833C>T	ENSP00000490807.1:n.198+8833C>T
ENST00000637223.1:c.*313C>T	ENSP00000490010.1:n.*313C>T
ENST00000637329.1:c.568C>T
ENST00000637450.1:c.*253C>T	ENSP00000490204.1:n.*253C>T
ENST00000637494.1:c.311C>T	ENSP00000490057.1:p.Ser104Phe
ENST00000637667.1:c.500C>T	ENSP00000489843.1:p.Ser167Phe
ENST00000637823.1:c.424C>T
ENST00000637888.1:c.198+8833C>T	ENSP00000490546.1:n.198+8833C>T
ENST00000638076.1:c.*202C>T	ENSP00000490373.1:n.*202C>T
ENST00000638144.1:n.242C>T
ENST00000646164.1:c.38+8833C>T
ENST00000249806.9:c.599C>T	ENSP00000249806.5:p.Ser200Phe
ENST00000538696.5:c.695C>T	ENSP00000445770.1:p.Ser232Phe
ENST00000562767.1:c.84-12075C>T	ENSP00000456336.1:n.84-12075C>T
ENST00000563917.1:n.499C>T
ENST00000564752.1:c.625C>T	ENSP00000457822.1:p.Leu209=
ENST00000565471.5:c.140C>T	ENSP00000457384.1:p.Ser47Phe
ENST00000566347.5:c.410C>T	ENSP00000457783.1:p.Ser137Phe
ENST00000567060.5:c.315C>T	ENSP00000454818.1:p.Leu105=
NM_017882.2:c.599C>T	NP_060352.1:p.Ser200Phe
XR_931861.1:n.821C>T
NM_017882.3:c.599C>T MANE Select	NP_060352.1:p.Ser200Phe