Canonical Allele Identifier: CA7630523

Gene: CLN6

Linked Data

• ClinVar Variation Id: 575112
• ClinVar RCV Id: RCV000697232
• dbSNP Id: rs751562146
• ExAC: 15:68502006 G / A
• gnomAD v2: 15-68502006-G-A
• gnomAD v4: 15-68209668-G-A
• MyVariant Identifiers: chr15:g.68502006G>A (hg19) ; chr15:g.68209668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209668G>A , CM000677.2:g.68209668G>A	GRCh38
NC_000015.9:g.68502006G>A , CM000677.1:g.68502006G>A	GRCh37
NC_000015.8:g.66289060G>A	NCBI36
NG_008764.2:g.52544C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.634C>T MANE Select	ENSP00000249806.5:p.Leu212Phe
ENST00000562767.2:c.84-12040C>T	ENSP00000456336.1:n.84-12040C>T
ENST00000563917.2:n.476C>T
ENST00000565471.6:c.175C>T	ENSP00000457384.1:p.Leu59Phe
ENST00000635747.1:c.*537C>T	ENSP00000490627.1:n.*537C>T
ENST00000636212.1:c.*304C>T	ENSP00000489851.1:n.*304C>T
ENST00000636674.1:n.1736C>T
ENST00000636964.1:n.2162C>T
ENST00000637054.1:c.198+8868C>T	ENSP00000490807.1:n.198+8868C>T
ENST00000637329.1:c.603C>T
ENST00000637450.1:c.*288C>T	ENSP00000490204.1:n.*288C>T
ENST00000637494.1:c.346C>T	ENSP00000490057.1:p.Leu116Phe
ENST00000637667.1:c.535C>T	ENSP00000489843.1:p.Leu179Phe
ENST00000637823.1:c.459C>T
ENST00000637888.1:c.198+8868C>T	ENSP00000490546.1:n.198+8868C>T
ENST00000638076.1:c.*237C>T	ENSP00000490373.1:n.*237C>T
ENST00000638144.1:n.277C>T
ENST00000646164.1:c.38+8868C>T
ENST00000249806.9:c.634C>T	ENSP00000249806.5:p.Leu212Phe
ENST00000538696.5:c.730C>T	ENSP00000445770.1:p.Leu244Phe
ENST00000562767.1:c.84-12040C>T	ENSP00000456336.1:n.84-12040C>T
ENST00000563917.1:n.534C>T
ENST00000564752.1:c.*18C>T	ENSP00000457822.1:n.*18C>T
ENST00000565471.5:c.175C>T	ENSP00000457384.1:p.Leu59Phe
ENST00000566347.5:c.445C>T	ENSP00000457783.1:p.Leu149Phe
ENST00000567060.5:c.*32C>T	ENSP00000454818.1:n.*32C>T
NM_017882.2:c.634C>T	NP_060352.1:p.Leu212Phe
XR_931861.1:n.856C>T
NM_017882.3:c.634C>T MANE Select	NP_060352.1:p.Leu212Phe