Canonical Allele Identifier: CA392973566

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2175447
• ClinVar RCV Id: RCV002579230
• dbSNP Id: rs1435752034
• gnomAD v2: 15-68504135-T-C
• gnomAD v4: 15-68211797-T-C
• MyVariant Identifiers: chr15:g.68504135T>C (hg19) ; chr15:g.68211797T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211797T>C , CM000677.2:g.68211797T>C	GRCh38
NC_000015.9:g.68504135T>C , CM000677.1:g.68504135T>C	GRCh37
NC_000015.8:g.66291189T>C	NCBI36
NG_008764.2:g.50415A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.364A>G MANE Select	ENSP00000249806.5:p.Met122Val
ENST00000562767.2:c.84-14169A>G	ENSP00000456336.1:n.84-14169A>G
ENST00000563917.2:n.206A>G
ENST00000565471.6:c.84-2038A>G	ENSP00000457384.1:n.84-2038A>G
ENST00000635747.1:c.*267A>G	ENSP00000490627.1:n.*267A>G
ENST00000636212.1:c.298-56A>G	ENSP00000489851.1:n.298-56A>G
ENST00000636314.1:c.183-479A>G	ENSP00000490295.1:n.183-479A>G
ENST00000636674.1:n.1347A>G
ENST00000636964.1:n.1536A>G
ENST00000637054.1:c.198+6739A>G	ENSP00000490807.1:n.198+6739A>G
ENST00000637223.1:c.*201-479A>G	ENSP00000490010.1:n.*201-479A>G
ENST00000637329.1:c.333A>G
ENST00000637450.1:c.*18A>G	ENSP00000490204.1:n.*18A>G
ENST00000637494.1:c.199-479A>G	ENSP00000490057.1:n.199-479A>G
ENST00000637667.1:c.265A>G	ENSP00000489843.1:p.Met89Val
ENST00000637823.1:c.224-154A>G
ENST00000637888.1:c.198+6739A>G	ENSP00000490546.1:n.198+6739A>G
ENST00000638076.1:c.364A>G	ENSP00000490373.1:p.Met122Val
ENST00000638144.1:n.130-479A>G
ENST00000646164.1:c.38+6739A>G
ENST00000249806.9:c.364A>G	ENSP00000249806.5:p.Met122Val
ENST00000538696.5:c.460A>G	ENSP00000445770.1:p.Met154Val
ENST00000562767.1:c.84-14169A>G	ENSP00000456336.1:n.84-14169A>G
ENST00000563917.1:n.145A>G
ENST00000564752.1:c.364A>G	ENSP00000457822.1:p.Met122Val
ENST00000565471.5:c.84-2038A>G	ENSP00000457384.1:n.84-2038A>G
ENST00000566347.5:c.298-479A>G	ENSP00000457783.1:n.298-479A>G
ENST00000567060.5:c.298-2077A>G	ENSP00000454818.1:n.298-2077A>G
NM_017882.2:c.364A>G	NP_060352.1:p.Met122Val
XR_931861.1:n.467A>G
NM_017882.3:c.364A>G MANE Select	NP_060352.1:p.Met122Val