Canonical Allele Identifier: CA392972299

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500725A>C (hg19) ; chr15:g.68208387A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208387A>C , CM000677.2:g.68208387A>C	GRCh38
NC_000015.9:g.68500725A>C , CM000677.1:g.68500725A>C	GRCh37
NC_000015.8:g.66287779A>C	NCBI36
NG_008764.2:g.53825T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.689T>G MANE Select	ENSP00000249806.5:p.Ile230Ser
ENST00000562767.2:c.84-10759T>G	ENSP00000456336.1:n.84-10759T>G
ENST00000563917.2:n.531T>G
ENST00000565471.6:c.230T>G	ENSP00000457384.1:p.Ile77Ser
ENST00000635747.1:c.*592T>G	ENSP00000490627.1:n.*592T>G
ENST00000636212.1:c.*359T>G	ENSP00000489851.1:n.*359T>G
ENST00000636674.1:n.1791T>G
ENST00000636964.1:n.2217T>G
ENST00000637054.1:c.198+10149T>G	ENSP00000490807.1:n.198+10149T>G
ENST00000637329.1:c.658T>G
ENST00000637450.1:c.*343T>G	ENSP00000490204.1:n.*343T>G
ENST00000637494.1:c.401T>G	ENSP00000490057.1:p.Ile134Ser
ENST00000637667.1:c.590T>G	ENSP00000489843.1:p.Ile197Ser
ENST00000637823.1:c.514T>G
ENST00000637888.1:c.198+10149T>G	ENSP00000490546.1:n.198+10149T>G
ENST00000638076.1:c.*292T>G	ENSP00000490373.1:n.*292T>G
ENST00000638144.1:n.332T>G
ENST00000646164.1:c.39-8706T>G
ENST00000249806.9:c.689T>G	ENSP00000249806.5:p.Ile230Ser
ENST00000538696.5:c.785T>G	ENSP00000445770.1:p.Ile262Ser
ENST00000562767.1:c.84-10759T>G	ENSP00000456336.1:n.84-10759T>G
ENST00000564752.1:c.*73T>G	ENSP00000457822.1:n.*73T>G
ENST00000565471.5:c.230T>G	ENSP00000457384.1:p.Ile77Ser
ENST00000566347.5:c.500T>G	ENSP00000457783.1:p.Ile167Ser
ENST00000567060.5:c.*87T>G	ENSP00000454818.1:n.*87T>G
NM_017882.2:c.689T>G	NP_060352.1:p.Ile230Ser
NM_017882.3:c.689T>G MANE Select	NP_060352.1:p.Ile230Ser