Canonical Allele Identifier: CA392973353

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211700-A-T
• MyVariant Identifiers: chr15:g.68504038A>T (hg19) ; chr15:g.68211700A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211700A>T , CM000677.2:g.68211700A>T	GRCh38
NC_000015.9:g.68504038A>T , CM000677.1:g.68504038A>T	GRCh37
NC_000015.8:g.66291092A>T	NCBI36
NG_008764.2:g.50512T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.461T>A MANE Select	ENSP00000249806.5:p.Ile154Asn
ENST00000562767.2:c.84-14072T>A	ENSP00000456336.1:n.84-14072T>A
ENST00000563917.2:n.303T>A
ENST00000565471.6:c.84-1941T>A	ENSP00000457384.1:n.84-1941T>A
ENST00000635747.1:c.*364T>A	ENSP00000490627.1:n.*364T>A
ENST00000636212.1:c.*12T>A	ENSP00000489851.1:n.*12T>A
ENST00000636314.1:c.183-382T>A	ENSP00000490295.1:n.183-382T>A
ENST00000636674.1:n.1444T>A
ENST00000636964.1:n.1633T>A
ENST00000637054.1:c.198+6836T>A	ENSP00000490807.1:n.198+6836T>A
ENST00000637223.1:c.*201-382T>A	ENSP00000490010.1:n.*201-382T>A
ENST00000637329.1:c.430T>A
ENST00000637450.1:c.*115T>A	ENSP00000490204.1:n.*115T>A
ENST00000637494.1:c.199-382T>A	ENSP00000490057.1:n.199-382T>A
ENST00000637667.1:c.362T>A	ENSP00000489843.1:p.Ile121Asn
ENST00000637823.1:c.224-57T>A
ENST00000637888.1:c.198+6836T>A	ENSP00000490546.1:n.198+6836T>A
ENST00000638076.1:c.461T>A	ENSP00000490373.1:p.Ile154Asn
ENST00000638144.1:n.130-382T>A
ENST00000646164.1:c.38+6836T>A
ENST00000249806.9:c.461T>A	ENSP00000249806.5:p.Ile154Asn
ENST00000538696.5:c.557T>A	ENSP00000445770.1:p.Ile186Asn
ENST00000562767.1:c.84-14072T>A	ENSP00000456336.1:n.84-14072T>A
ENST00000563917.1:n.242T>A
ENST00000564752.1:c.461T>A	ENSP00000457822.1:p.Ile154Asn
ENST00000565471.5:c.84-1941T>A	ENSP00000457384.1:n.84-1941T>A
ENST00000566347.5:c.298-382T>A	ENSP00000457783.1:n.298-382T>A
ENST00000567060.5:c.298-1980T>A	ENSP00000454818.1:n.298-1980T>A
NM_017882.2:c.461T>A	NP_060352.1:p.Ile154Asn
XR_931861.1:n.564T>A
NM_017882.3:c.461T>A MANE Select	NP_060352.1:p.Ile154Asn