Canonical Allele Identifier: CA7630518

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2984687
• ClinVar RCV Id: RCV003845830
• dbSNP Id: rs762159854
• ExAC: 15:68501998 C / T
• gnomAD v2: 15-68501998-C-T
• gnomAD v4: 15-68209660-C-T
• MyVariant Identifiers: chr15:g.68501998C>T (hg19) ; chr15:g.68209660C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209660C>T , CM000677.2:g.68209660C>T	GRCh38
NC_000015.9:g.68501998C>T , CM000677.1:g.68501998C>T	GRCh37
NC_000015.8:g.66289052C>T	NCBI36
NG_008764.2:g.52552G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.642G>A MANE Select	ENSP00000249806.5:p.Val214=
ENST00000562767.2:c.84-12032G>A	ENSP00000456336.1:n.84-12032G>A
ENST00000563917.2:n.484G>A
ENST00000565471.6:c.183G>A	ENSP00000457384.1:p.Val61=
ENST00000635747.1:c.*545G>A	ENSP00000490627.1:n.*545G>A
ENST00000636212.1:c.*312G>A	ENSP00000489851.1:n.*312G>A
ENST00000636674.1:n.1744G>A
ENST00000636964.1:n.2170G>A
ENST00000637054.1:c.198+8876G>A	ENSP00000490807.1:n.198+8876G>A
ENST00000637329.1:c.611G>A
ENST00000637450.1:c.*296G>A	ENSP00000490204.1:n.*296G>A
ENST00000637494.1:c.354G>A	ENSP00000490057.1:p.Val118=
ENST00000637667.1:c.543G>A	ENSP00000489843.1:p.Val181=
ENST00000637823.1:c.467G>A
ENST00000637888.1:c.198+8876G>A	ENSP00000490546.1:n.198+8876G>A
ENST00000638076.1:c.*245G>A	ENSP00000490373.1:n.*245G>A
ENST00000638144.1:n.285G>A
ENST00000646164.1:c.38+8876G>A
ENST00000249806.9:c.642G>A	ENSP00000249806.5:p.Val214=
ENST00000538696.5:c.738G>A	ENSP00000445770.1:p.Val246=
ENST00000562767.1:c.84-12032G>A	ENSP00000456336.1:n.84-12032G>A
ENST00000563917.1:n.542G>A
ENST00000564752.1:c.*26G>A	ENSP00000457822.1:n.*26G>A
ENST00000565471.5:c.183G>A	ENSP00000457384.1:p.Val61=
ENST00000566347.5:c.453G>A	ENSP00000457783.1:p.Val151=
ENST00000567060.5:c.*40G>A	ENSP00000454818.1:n.*40G>A
NM_017882.2:c.642G>A	NP_060352.1:p.Val214=
XR_931861.1:n.864G>A
NM_017882.3:c.642G>A MANE Select	NP_060352.1:p.Val214=