Canonical Allele Identifier: CA491100035

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500682G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208344G>T , CM000677.2:g.68208344G>T	GRCh38
NC_000015.9:g.68500682G>T , CM000677.1:g.68500682G>T	GRCh37
NC_000015.8:g.66287736G>T	NCBI36
NG_008764.2:g.53868C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.732C>A MANE Select	ENSP00000249806.5:p.Leu244=
ENST00000562767.2:c.84-10716C>A	ENSP00000456336.1:n.84-10716C>A
ENST00000565471.6:c.273C>A	ENSP00000457384.1:p.Leu91=
ENST00000635747.1:c.*635C>A	ENSP00000490627.1:n.*635C>A
ENST00000636212.1:c.*402C>A	ENSP00000489851.1:n.*402C>A
ENST00000636674.1:n.1834C>A
ENST00000636964.1:n.2260C>A
ENST00000637054.1:c.198+10192C>A	ENSP00000490807.1:n.198+10192C>A
ENST00000637329.1:c.701C>A
ENST00000637450.1:c.*386C>A	ENSP00000490204.1:n.*386C>A
ENST00000637494.1:c.444C>A	ENSP00000490057.1:p.Leu148=
ENST00000637667.1:c.633C>A	ENSP00000489843.1:p.Leu211=
ENST00000637823.1:c.557C>A
ENST00000637888.1:c.198+10192C>A	ENSP00000490546.1:n.198+10192C>A
ENST00000638076.1:c.*335C>A	ENSP00000490373.1:n.*335C>A
ENST00000638144.1:n.375C>A
ENST00000646164.1:c.39-8663C>A
ENST00000249806.9:c.732C>A	ENSP00000249806.5:p.Leu244=
ENST00000538696.5:c.828C>A	ENSP00000445770.1:p.Leu276=
ENST00000562767.1:c.84-10716C>A	ENSP00000456336.1:n.84-10716C>A
ENST00000564752.1:c.*116C>A	ENSP00000457822.1:n.*116C>A
ENST00000565471.5:c.273C>A	ENSP00000457384.1:p.Leu91=
ENST00000566347.5:c.543C>A	ENSP00000457783.1:p.Leu181=
ENST00000567060.5:c.*130C>A	ENSP00000454818.1:n.*130C>A
NM_017882.2:c.732C>A	NP_060352.1:p.Leu244=
NM_017882.3:c.732C>A MANE Select	NP_060352.1:p.Leu244=