Canonical Allele Identifier: CA392973166

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503630A>C (hg19) ; chr15:g.68211292A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211292A>C , CM000677.2:g.68211292A>C	GRCh38
NC_000015.9:g.68503630A>C , CM000677.1:g.68503630A>C	GRCh37
NC_000015.8:g.66290684A>C	NCBI36
NG_008764.2:g.50920T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.513T>G MANE Select	ENSP00000249806.5:p.Tyr171Ter
ENST00000562767.2:c.84-13664T>G	ENSP00000456336.1:n.84-13664T>G
ENST00000563917.2:n.355T>G
ENST00000565471.6:c.84-1533T>G	ENSP00000457384.1:n.84-1533T>G
ENST00000635747.1:c.*416T>G	ENSP00000490627.1:n.*416T>G
ENST00000636212.1:c.*183T>G	ENSP00000489851.1:n.*183T>G
ENST00000636314.1:c.209T>G	ENSP00000490295.1:p.Ile70Ser
ENST00000636674.1:n.1615T>G
ENST00000636964.1:n.2041T>G
ENST00000637054.1:c.198+7244T>G	ENSP00000490807.1:n.198+7244T>G
ENST00000637223.1:c.*227T>G	ENSP00000490010.1:n.*227T>G
ENST00000637329.1:c.482T>G
ENST00000637450.1:c.*167T>G	ENSP00000490204.1:n.*167T>G
ENST00000637494.1:c.225T>G	ENSP00000490057.1:p.Tyr75Ter
ENST00000637667.1:c.414T>G	ENSP00000489843.1:p.Tyr138Ter
ENST00000637823.1:c.338T>G
ENST00000637888.1:c.198+7244T>G	ENSP00000490546.1:n.198+7244T>G
ENST00000638076.1:c.*116T>G	ENSP00000490373.1:n.*116T>G
ENST00000638144.1:n.156T>G
ENST00000646164.1:c.38+7244T>G
ENST00000249806.9:c.513T>G	ENSP00000249806.5:p.Tyr171Ter
ENST00000538696.5:c.609T>G	ENSP00000445770.1:p.Tyr203Ter
ENST00000562767.1:c.84-13664T>G	ENSP00000456336.1:n.84-13664T>G
ENST00000563917.1:n.413T>G
ENST00000564752.1:c.539T>G	ENSP00000457822.1:p.Ile180Ser
ENST00000565471.5:c.84-1533T>G	ENSP00000457384.1:n.84-1533T>G
ENST00000566347.5:c.324T>G	ENSP00000457783.1:p.Tyr108Ter
ENST00000567060.5:c.298-1572T>G	ENSP00000454818.1:n.298-1572T>G
NM_017882.2:c.513T>G	NP_060352.1:p.Tyr171Ter
XR_931861.1:n.735T>G
NM_017882.3:c.513T>G MANE Select	NP_060352.1:p.Tyr171Ter