Canonical Allele Identifier: CA392973025

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1141495
• ClinVar RCV Id: RCV001478943
• dbSNP Id: rs1305810285
• gnomAD v2: 15-68502082-G-A
• gnomAD v3: 15-68209744-G-A
• gnomAD v4: 15-68209744-G-A
• MyVariant Identifiers: chr15:g.68502082G>A (hg19) ; chr15:g.68209744G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209744G>A , CM000677.2:g.68209744G>A	GRCh38
NC_000015.9:g.68502082G>A , CM000677.1:g.68502082G>A	GRCh37
NC_000015.8:g.66289136G>A	NCBI36
NG_008764.2:g.52468C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.558C>T MANE Select	ENSP00000249806.5:p.Phe186=
ENST00000562767.2:c.84-12116C>T	ENSP00000456336.1:n.84-12116C>T
ENST00000563917.2:n.400C>T
ENST00000565471.6:c.99C>T	ENSP00000457384.1:p.Phe33=
ENST00000635747.1:c.*461C>T	ENSP00000490627.1:n.*461C>T
ENST00000636212.1:c.*228C>T	ENSP00000489851.1:n.*228C>T
ENST00000636314.1:c.254C>T	ENSP00000490295.1:p.Ser85Phe
ENST00000636674.1:n.1660C>T
ENST00000636964.1:n.2086C>T
ENST00000637054.1:c.198+8792C>T	ENSP00000490807.1:n.198+8792C>T
ENST00000637223.1:c.*272C>T	ENSP00000490010.1:n.*272C>T
ENST00000637329.1:c.527C>T
ENST00000637450.1:c.*212C>T	ENSP00000490204.1:n.*212C>T
ENST00000637494.1:c.270C>T	ENSP00000490057.1:p.Phe90=
ENST00000637667.1:c.459C>T	ENSP00000489843.1:p.Phe153=
ENST00000637823.1:c.383C>T
ENST00000637888.1:c.198+8792C>T	ENSP00000490546.1:n.198+8792C>T
ENST00000638076.1:c.*161C>T	ENSP00000490373.1:n.*161C>T
ENST00000638144.1:n.201C>T
ENST00000646164.1:c.38+8792C>T
ENST00000249806.9:c.558C>T	ENSP00000249806.5:p.Phe186=
ENST00000538696.5:c.654C>T	ENSP00000445770.1:p.Phe218=
ENST00000562767.1:c.84-12116C>T	ENSP00000456336.1:n.84-12116C>T
ENST00000563917.1:n.458C>T
ENST00000564752.1:c.584C>T	ENSP00000457822.1:p.Ser195Phe
ENST00000565471.5:c.99C>T	ENSP00000457384.1:p.Phe33=
ENST00000566347.5:c.369C>T	ENSP00000457783.1:p.Phe123=
ENST00000567060.5:c.298-24C>T	ENSP00000454818.1:n.298-24C>T
NM_017882.2:c.558C>T	NP_060352.1:p.Phe186=
XR_931861.1:n.780C>T
NM_017882.3:c.558C>T MANE Select	NP_060352.1:p.Phe186=