Canonical Allele Identifier: CA7630531

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1082458
• ClinVar RCV Id: RCV001398749 ; RCV001550332
• dbSNP Id: rs769007090
• ExAC: 15:68502058 G / A
• gnomAD v2: 15-68502058-G-A
• gnomAD v3: 15-68209720-G-A
• gnomAD v4: 15-68209720-G-A
• COSMIC: COSM2257823
• MyVariant Identifiers: chr15:g.68502058G>A (hg19) ; chr15:g.68209720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209720G>A , CM000677.2:g.68209720G>A	GRCh38
NC_000015.9:g.68502058G>A , CM000677.1:g.68502058G>A	GRCh37
NC_000015.8:g.66289112G>A	NCBI36
NG_008764.2:g.52492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.582C>T MANE Select	ENSP00000249806.5:p.Ser194=
ENST00000562767.2:c.84-12092C>T	ENSP00000456336.1:n.84-12092C>T
ENST00000563917.2:n.424C>T
ENST00000565471.6:c.123C>T	ENSP00000457384.1:p.Ser41=
ENST00000635747.1:c.*485C>T	ENSP00000490627.1:n.*485C>T
ENST00000636212.1:c.*252C>T	ENSP00000489851.1:n.*252C>T
ENST00000636314.1:c.278C>T	ENSP00000490295.1:p.Ala93Val
ENST00000636674.1:n.1684C>T
ENST00000636964.1:n.2110C>T
ENST00000637054.1:c.198+8816C>T	ENSP00000490807.1:n.198+8816C>T
ENST00000637223.1:c.*296C>T	ENSP00000490010.1:n.*296C>T
ENST00000637329.1:c.551C>T
ENST00000637450.1:c.*236C>T	ENSP00000490204.1:n.*236C>T
ENST00000637494.1:c.294C>T	ENSP00000490057.1:p.Ser98=
ENST00000637667.1:c.483C>T	ENSP00000489843.1:p.Ser161=
ENST00000637823.1:c.407C>T
ENST00000637888.1:c.198+8816C>T	ENSP00000490546.1:n.198+8816C>T
ENST00000638076.1:c.*185C>T	ENSP00000490373.1:n.*185C>T
ENST00000638144.1:n.225C>T
ENST00000646164.1:c.38+8816C>T
ENST00000249806.9:c.582C>T	ENSP00000249806.5:p.Ser194=
ENST00000538696.5:c.678C>T	ENSP00000445770.1:p.Ser226=
ENST00000562767.1:c.84-12092C>T	ENSP00000456336.1:n.84-12092C>T
ENST00000563917.1:n.482C>T
ENST00000564752.1:c.608C>T	ENSP00000457822.1:p.Ala203Val
ENST00000565471.5:c.123C>T	ENSP00000457384.1:p.Ser41=
ENST00000566347.5:c.393C>T	ENSP00000457783.1:p.Ser131=
ENST00000567060.5:c.298C>T	ENSP00000454818.1:p.Arg100Trp
NM_017882.2:c.582C>T	NP_060352.1:p.Ser194=
XR_931861.1:n.804C>T
NM_017882.3:c.582C>T MANE Select	NP_060352.1:p.Ser194=