Canonical Allele Identifier: CA392972864

Gene: CLN6

Linked Data

• gnomAD v4: 15-68209683-G-C
• MyVariant Identifiers: chr15:g.68502021G>C (hg19) ; chr15:g.68209683G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209683G>C , CM000677.2:g.68209683G>C	GRCh38
NC_000015.9:g.68502021G>C , CM000677.1:g.68502021G>C	GRCh37
NC_000015.8:g.66289075G>C	NCBI36
NG_008764.2:g.52529C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.619C>G MANE Select	ENSP00000249806.5:p.Pro207Ala
ENST00000562767.2:c.84-12055C>G	ENSP00000456336.1:n.84-12055C>G
ENST00000563917.2:n.461C>G
ENST00000565471.6:c.160C>G	ENSP00000457384.1:p.Pro54Ala
ENST00000635747.1:c.*522C>G	ENSP00000490627.1:n.*522C>G
ENST00000636212.1:c.*289C>G	ENSP00000489851.1:n.*289C>G
ENST00000636314.1:c.*3C>G	ENSP00000490295.1:n.*3C>G
ENST00000636674.1:n.1721C>G
ENST00000636964.1:n.2147C>G
ENST00000637054.1:c.198+8853C>G	ENSP00000490807.1:n.198+8853C>G
ENST00000637329.1:c.588C>G
ENST00000637450.1:c.*273C>G	ENSP00000490204.1:n.*273C>G
ENST00000637494.1:c.331C>G	ENSP00000490057.1:p.Pro111Ala
ENST00000637667.1:c.520C>G	ENSP00000489843.1:p.Pro174Ala
ENST00000637823.1:c.444C>G
ENST00000637888.1:c.198+8853C>G	ENSP00000490546.1:n.198+8853C>G
ENST00000638076.1:c.*222C>G	ENSP00000490373.1:n.*222C>G
ENST00000638144.1:n.262C>G
ENST00000646164.1:c.38+8853C>G
ENST00000249806.9:c.619C>G	ENSP00000249806.5:p.Pro207Ala
ENST00000538696.5:c.715C>G	ENSP00000445770.1:p.Pro239Ala
ENST00000562767.1:c.84-12055C>G	ENSP00000456336.1:n.84-12055C>G
ENST00000563917.1:n.519C>G
ENST00000564752.1:c.*3C>G	ENSP00000457822.1:n.*3C>G
ENST00000565471.5:c.160C>G	ENSP00000457384.1:p.Pro54Ala
ENST00000566347.5:c.430C>G	ENSP00000457783.1:p.Pro144Ala
ENST00000567060.5:c.*17C>G	ENSP00000454818.1:n.*17C>G
NM_017882.2:c.619C>G	NP_060352.1:p.Pro207Ala
XR_931861.1:n.841C>G
NM_017882.3:c.619C>G MANE Select	NP_060352.1:p.Pro207Ala