Canonical Allele Identifier: CA490912607

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2150129
• ClinVar RCV Id: RCV003071794
• dbSNP Id: rs1398797344
• gnomAD v3: 15-68211690-G-C
• gnomAD v4: 15-68211690-G-C
• MyVariant Identifiers: chr15:g.68504028G>C (hg19) ; chr15:g.68211690G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211690G>C , CM000677.2:g.68211690G>C	GRCh38
NC_000015.9:g.68504028G>C , CM000677.1:g.68504028G>C	GRCh37
NC_000015.8:g.66291082G>C	NCBI36
NG_008764.2:g.50522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.471C>G MANE Select	ENSP00000249806.5:p.Leu157=
ENST00000562767.2:c.84-14062C>G	ENSP00000456336.1:n.84-14062C>G
ENST00000563917.2:n.313C>G
ENST00000565471.6:c.84-1931C>G	ENSP00000457384.1:n.84-1931C>G
ENST00000635747.1:c.*374C>G	ENSP00000490627.1:n.*374C>G
ENST00000636212.1:c.*22C>G	ENSP00000489851.1:n.*22C>G
ENST00000636314.1:c.183-372C>G	ENSP00000490295.1:n.183-372C>G
ENST00000636674.1:n.1454C>G
ENST00000636964.1:n.1643C>G
ENST00000637054.1:c.198+6846C>G	ENSP00000490807.1:n.198+6846C>G
ENST00000637223.1:c.*201-372C>G	ENSP00000490010.1:n.*201-372C>G
ENST00000637329.1:c.440C>G
ENST00000637450.1:c.*125C>G	ENSP00000490204.1:n.*125C>G
ENST00000637494.1:c.199-372C>G	ENSP00000490057.1:n.199-372C>G
ENST00000637667.1:c.372C>G	ENSP00000489843.1:p.Leu124=
ENST00000637823.1:c.224-47C>G
ENST00000637888.1:c.198+6846C>G	ENSP00000490546.1:n.198+6846C>G
ENST00000638076.1:c.471C>G	ENSP00000490373.1:p.Leu157=
ENST00000638144.1:n.130-372C>G
ENST00000646164.1:c.38+6846C>G
ENST00000249806.9:c.471C>G	ENSP00000249806.5:p.Leu157=
ENST00000538696.5:c.567C>G	ENSP00000445770.1:p.Leu189=
ENST00000562767.1:c.84-14062C>G	ENSP00000456336.1:n.84-14062C>G
ENST00000563917.1:n.252C>G
ENST00000564752.1:c.471C>G	ENSP00000457822.1:p.Leu157=
ENST00000565471.5:c.84-1931C>G	ENSP00000457384.1:n.84-1931C>G
ENST00000566347.5:c.298-372C>G	ENSP00000457783.1:n.298-372C>G
ENST00000567060.5:c.298-1970C>G	ENSP00000454818.1:n.298-1970C>G
NM_017882.2:c.471C>G	NP_060352.1:p.Leu157=
XR_931861.1:n.574C>G
NM_017882.3:c.471C>G MANE Select	NP_060352.1:p.Leu157=