Canonical Allele Identifier: CA392973158

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211289-A-T
• MyVariant Identifiers: chr15:g.68503627A>T (hg19) ; chr15:g.68211289A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211289A>T , CM000677.2:g.68211289A>T	GRCh38
NC_000015.9:g.68503627A>T , CM000677.1:g.68503627A>T	GRCh37
NC_000015.8:g.66290681A>T	NCBI36
NG_008764.2:g.50923T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.516T>A MANE Select	ENSP00000249806.5:p.Tyr172Ter
ENST00000562767.2:c.84-13661T>A	ENSP00000456336.1:n.84-13661T>A
ENST00000563917.2:n.358T>A
ENST00000565471.6:c.84-1530T>A	ENSP00000457384.1:n.84-1530T>A
ENST00000635747.1:c.*419T>A	ENSP00000490627.1:n.*419T>A
ENST00000636212.1:c.*186T>A	ENSP00000489851.1:n.*186T>A
ENST00000636314.1:c.212T>A	ENSP00000490295.1:p.Met71Lys
ENST00000636674.1:n.1618T>A
ENST00000636964.1:n.2044T>A
ENST00000637054.1:c.198+7247T>A	ENSP00000490807.1:n.198+7247T>A
ENST00000637223.1:c.*230T>A	ENSP00000490010.1:n.*230T>A
ENST00000637329.1:c.485T>A
ENST00000637450.1:c.*170T>A	ENSP00000490204.1:n.*170T>A
ENST00000637494.1:c.228T>A	ENSP00000490057.1:p.Tyr76Ter
ENST00000637667.1:c.417T>A	ENSP00000489843.1:p.Tyr139Ter
ENST00000637823.1:c.341T>A
ENST00000637888.1:c.198+7247T>A	ENSP00000490546.1:n.198+7247T>A
ENST00000638076.1:c.*119T>A	ENSP00000490373.1:n.*119T>A
ENST00000638144.1:n.159T>A
ENST00000646164.1:c.38+7247T>A
ENST00000249806.9:c.516T>A	ENSP00000249806.5:p.Tyr172Ter
ENST00000538696.5:c.612T>A	ENSP00000445770.1:p.Tyr204Ter
ENST00000562767.1:c.84-13661T>A	ENSP00000456336.1:n.84-13661T>A
ENST00000563917.1:n.416T>A
ENST00000564752.1:c.542T>A	ENSP00000457822.1:p.Met181Lys
ENST00000565471.5:c.84-1530T>A	ENSP00000457384.1:n.84-1530T>A
ENST00000566347.5:c.327T>A	ENSP00000457783.1:p.Tyr109Ter
ENST00000567060.5:c.298-1569T>A	ENSP00000454818.1:n.298-1569T>A
NM_017882.2:c.516T>A	NP_060352.1:p.Tyr172Ter
XR_931861.1:n.738T>A
NM_017882.3:c.516T>A MANE Select	NP_060352.1:p.Tyr172Ter