Canonical Allele Identifier: CA392972318

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500728T>G (hg19) ; chr15:g.68208390T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208390T>G , CM000677.2:g.68208390T>G	GRCh38
NC_000015.9:g.68500728T>G , CM000677.1:g.68500728T>G	GRCh37
NC_000015.8:g.66287782T>G	NCBI36
NG_008764.2:g.53822A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.686A>C MANE Select	ENSP00000249806.5:p.Gln229Pro
ENST00000562767.2:c.84-10762A>C	ENSP00000456336.1:n.84-10762A>C
ENST00000563917.2:n.528A>C
ENST00000565471.6:c.227A>C	ENSP00000457384.1:p.Gln76Pro
ENST00000635747.1:c.*589A>C	ENSP00000490627.1:n.*589A>C
ENST00000636212.1:c.*356A>C	ENSP00000489851.1:n.*356A>C
ENST00000636674.1:n.1788A>C
ENST00000636964.1:n.2214A>C
ENST00000637054.1:c.198+10146A>C	ENSP00000490807.1:n.198+10146A>C
ENST00000637329.1:c.655A>C
ENST00000637450.1:c.*340A>C	ENSP00000490204.1:n.*340A>C
ENST00000637494.1:c.398A>C	ENSP00000490057.1:p.Gln133Pro
ENST00000637667.1:c.587A>C	ENSP00000489843.1:p.Gln196Pro
ENST00000637823.1:c.511A>C
ENST00000637888.1:c.198+10146A>C	ENSP00000490546.1:n.198+10146A>C
ENST00000638076.1:c.*289A>C	ENSP00000490373.1:n.*289A>C
ENST00000638144.1:n.329A>C
ENST00000646164.1:c.39-8709A>C
ENST00000249806.9:c.686A>C	ENSP00000249806.5:p.Gln229Pro
ENST00000538696.5:c.782A>C	ENSP00000445770.1:p.Gln261Pro
ENST00000562767.1:c.84-10762A>C	ENSP00000456336.1:n.84-10762A>C
ENST00000564752.1:c.*70A>C	ENSP00000457822.1:n.*70A>C
ENST00000565471.5:c.227A>C	ENSP00000457384.1:p.Gln76Pro
ENST00000566347.5:c.497A>C	ENSP00000457783.1:p.Gln166Pro
ENST00000567060.5:c.*84A>C	ENSP00000454818.1:n.*84A>C
NM_017882.2:c.686A>C	NP_060352.1:p.Gln229Pro
NM_017882.3:c.686A>C MANE Select	NP_060352.1:p.Gln229Pro