Canonical Allele Identifier: CA392972330

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1952019
• ClinVar RCV Id: RCV002676670
• MyVariant Identifiers: chr15:g.68500731C>T (hg19) ; chr15:g.68208393C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208393C>T , CM000677.2:g.68208393C>T	GRCh38
NC_000015.9:g.68500731C>T , CM000677.1:g.68500731C>T	GRCh37
NC_000015.8:g.66287785C>T	NCBI36
NG_008764.2:g.53819G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.683G>A MANE Select	ENSP00000249806.5:p.Gly228Asp
ENST00000562767.2:c.84-10765G>A	ENSP00000456336.1:n.84-10765G>A
ENST00000563917.2:n.525G>A
ENST00000565471.6:c.224G>A	ENSP00000457384.1:p.Gly75Asp
ENST00000635747.1:c.*586G>A	ENSP00000490627.1:n.*586G>A
ENST00000636212.1:c.*353G>A	ENSP00000489851.1:n.*353G>A
ENST00000636674.1:n.1785G>A
ENST00000636964.1:n.2211G>A
ENST00000637054.1:c.198+10143G>A	ENSP00000490807.1:n.198+10143G>A
ENST00000637329.1:c.652G>A
ENST00000637450.1:c.*337G>A	ENSP00000490204.1:n.*337G>A
ENST00000637494.1:c.395G>A	ENSP00000490057.1:p.Gly132Asp
ENST00000637667.1:c.584G>A	ENSP00000489843.1:p.Gly195Asp
ENST00000637823.1:c.508G>A
ENST00000637888.1:c.198+10143G>A	ENSP00000490546.1:n.198+10143G>A
ENST00000638076.1:c.*286G>A	ENSP00000490373.1:n.*286G>A
ENST00000638144.1:n.326G>A
ENST00000646164.1:c.39-8712G>A
ENST00000249806.9:c.683G>A	ENSP00000249806.5:p.Gly228Asp
ENST00000538696.5:c.779G>A	ENSP00000445770.1:p.Gly260Asp
ENST00000562767.1:c.84-10765G>A	ENSP00000456336.1:n.84-10765G>A
ENST00000564752.1:c.*67G>A	ENSP00000457822.1:n.*67G>A
ENST00000565471.5:c.224G>A	ENSP00000457384.1:p.Gly75Asp
ENST00000566347.5:c.494G>A	ENSP00000457783.1:p.Gly165Asp
ENST00000567060.5:c.*81G>A	ENSP00000454818.1:n.*81G>A
NM_017882.2:c.683G>A	NP_060352.1:p.Gly228Asp
NM_017882.3:c.683G>A MANE Select	NP_060352.1:p.Gly228Asp