Canonical Allele Identifier: CA490912562

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211675-C-G
• MyVariant Identifiers: chr15:g.68504013C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211675C>G , CM000677.2:g.68211675C>G	GRCh38
NC_000015.9:g.68504013C>G , CM000677.1:g.68504013C>G	GRCh37
NC_000015.8:g.66291067C>G	NCBI36
NG_008764.2:g.50537G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.486G>C MANE Select	ENSP00000249806.5:p.Leu162=
ENST00000562767.2:c.84-14047G>C	ENSP00000456336.1:n.84-14047G>C
ENST00000563917.2:n.328G>C
ENST00000565471.6:c.84-1916G>C	ENSP00000457384.1:n.84-1916G>C
ENST00000635747.1:c.*389G>C	ENSP00000490627.1:n.*389G>C
ENST00000636212.1:c.*37G>C	ENSP00000489851.1:n.*37G>C
ENST00000636314.1:c.183-357G>C	ENSP00000490295.1:n.183-357G>C
ENST00000636674.1:n.1469G>C
ENST00000636964.1:n.1658G>C
ENST00000637054.1:c.198+6861G>C	ENSP00000490807.1:n.198+6861G>C
ENST00000637223.1:c.*201-357G>C	ENSP00000490010.1:n.*201-357G>C
ENST00000637329.1:c.455G>C
ENST00000637450.1:c.*140G>C	ENSP00000490204.1:n.*140G>C
ENST00000637494.1:c.199-357G>C	ENSP00000490057.1:n.199-357G>C
ENST00000637667.1:c.387G>C	ENSP00000489843.1:p.Leu129=
ENST00000637823.1:c.224-32G>C
ENST00000637888.1:c.198+6861G>C	ENSP00000490546.1:n.198+6861G>C
ENST00000638076.1:c.486G>C	ENSP00000490373.1:p.Leu162=
ENST00000638144.1:n.130-357G>C
ENST00000646164.1:c.38+6861G>C
ENST00000249806.9:c.486G>C	ENSP00000249806.5:p.Leu162=
ENST00000538696.5:c.582G>C	ENSP00000445770.1:p.Leu194=
ENST00000562767.1:c.84-14047G>C	ENSP00000456336.1:n.84-14047G>C
ENST00000563917.1:n.267G>C
ENST00000564752.1:c.486G>C	ENSP00000457822.1:p.Leu162=
ENST00000565471.5:c.84-1916G>C	ENSP00000457384.1:n.84-1916G>C
ENST00000566347.5:c.298-357G>C	ENSP00000457783.1:n.298-357G>C
ENST00000567060.5:c.298-1955G>C	ENSP00000454818.1:n.298-1955G>C
NM_017882.2:c.486G>C	NP_060352.1:p.Leu162=
XR_931861.1:n.589G>C
NM_017882.3:c.486G>C MANE Select	NP_060352.1:p.Leu162=