Canonical Allele Identifier: CA392972374

Gene: CLN6

Linked Data

• dbSNP Id: rs559620662
• gnomAD v4: 15-68208406-G-C
• MyVariant Identifiers: chr15:g.68500744G>C (hg19) ; chr15:g.68208406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208406G>C , CM000677.2:g.68208406G>C	GRCh38
NC_000015.9:g.68500744G>C , CM000677.1:g.68500744G>C	GRCh37
NC_000015.8:g.66287798G>C	NCBI36
NG_008764.2:g.53806C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.670C>G MANE Select	ENSP00000249806.5:p.Leu224Val
ENST00000562767.2:c.84-10778C>G	ENSP00000456336.1:n.84-10778C>G
ENST00000563917.2:n.512C>G
ENST00000565471.6:c.211C>G	ENSP00000457384.1:p.Leu71Val
ENST00000635747.1:c.*573C>G	ENSP00000490627.1:n.*573C>G
ENST00000636212.1:c.*340C>G	ENSP00000489851.1:n.*340C>G
ENST00000636674.1:n.1772C>G
ENST00000636964.1:n.2198C>G
ENST00000637054.1:c.198+10130C>G	ENSP00000490807.1:n.198+10130C>G
ENST00000637329.1:c.639C>G
ENST00000637450.1:c.*324C>G	ENSP00000490204.1:n.*324C>G
ENST00000637494.1:c.382C>G	ENSP00000490057.1:p.Leu128Val
ENST00000637667.1:c.571C>G	ENSP00000489843.1:p.Leu191Val
ENST00000637823.1:c.495C>G
ENST00000637888.1:c.198+10130C>G	ENSP00000490546.1:n.198+10130C>G
ENST00000638076.1:c.*273C>G	ENSP00000490373.1:n.*273C>G
ENST00000638144.1:n.313C>G
ENST00000646164.1:c.39-8725C>G
ENST00000249806.9:c.670C>G	ENSP00000249806.5:p.Leu224Val
ENST00000538696.5:c.766C>G	ENSP00000445770.1:p.Leu256Val
ENST00000562767.1:c.84-10778C>G	ENSP00000456336.1:n.84-10778C>G
ENST00000564752.1:c.*54C>G	ENSP00000457822.1:n.*54C>G
ENST00000565471.5:c.211C>G	ENSP00000457384.1:p.Leu71Val
ENST00000566347.5:c.481C>G	ENSP00000457783.1:p.Leu161Val
ENST00000567060.5:c.*68C>G	ENSP00000454818.1:n.*68C>G
NM_017882.2:c.670C>G	NP_060352.1:p.Leu224Val
XR_931861.1:n.892C>G
NM_017882.3:c.670C>G MANE Select	NP_060352.1:p.Leu224Val