Canonical Allele Identifier: CA392973547

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211788-T-A
• COSMIC: COSM4923328
• MyVariant Identifiers: chr15:g.68504126T>A (hg19) ; chr15:g.68211788T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211788T>A , CM000677.2:g.68211788T>A	GRCh38
NC_000015.9:g.68504126T>A , CM000677.1:g.68504126T>A	GRCh37
NC_000015.8:g.66291180T>A	NCBI36
NG_008764.2:g.50424A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.373A>T MANE Select	ENSP00000249806.5:p.Ser125Cys
ENST00000562767.2:c.84-14160A>T	ENSP00000456336.1:n.84-14160A>T
ENST00000563917.2:n.215A>T
ENST00000565471.6:c.84-2029A>T	ENSP00000457384.1:n.84-2029A>T
ENST00000635747.1:c.*276A>T	ENSP00000490627.1:n.*276A>T
ENST00000636212.1:c.298-47A>T	ENSP00000489851.1:n.298-47A>T
ENST00000636314.1:c.183-470A>T	ENSP00000490295.1:n.183-470A>T
ENST00000636674.1:n.1356A>T
ENST00000636964.1:n.1545A>T
ENST00000637054.1:c.198+6748A>T	ENSP00000490807.1:n.198+6748A>T
ENST00000637223.1:c.*201-470A>T	ENSP00000490010.1:n.*201-470A>T
ENST00000637329.1:c.342A>T
ENST00000637450.1:c.*27A>T	ENSP00000490204.1:n.*27A>T
ENST00000637494.1:c.199-470A>T	ENSP00000490057.1:n.199-470A>T
ENST00000637667.1:c.274A>T	ENSP00000489843.1:p.Ser92Cys
ENST00000637823.1:c.224-145A>T
ENST00000637888.1:c.198+6748A>T	ENSP00000490546.1:n.198+6748A>T
ENST00000638076.1:c.373A>T	ENSP00000490373.1:p.Ser125Cys
ENST00000638144.1:n.130-470A>T
ENST00000646164.1:c.38+6748A>T
ENST00000249806.9:c.373A>T	ENSP00000249806.5:p.Ser125Cys
ENST00000538696.5:c.469A>T	ENSP00000445770.1:p.Ser157Cys
ENST00000562767.1:c.84-14160A>T	ENSP00000456336.1:n.84-14160A>T
ENST00000563917.1:n.154A>T
ENST00000564752.1:c.373A>T	ENSP00000457822.1:p.Ser125Cys
ENST00000565471.5:c.84-2029A>T	ENSP00000457384.1:n.84-2029A>T
ENST00000566347.5:c.298-470A>T	ENSP00000457783.1:n.298-470A>T
ENST00000567060.5:c.298-2068A>T	ENSP00000454818.1:n.298-2068A>T
NM_017882.2:c.373A>T	NP_060352.1:p.Ser125Cys
XR_931861.1:n.476A>T
NM_017882.3:c.373A>T MANE Select	NP_060352.1:p.Ser125Cys