Canonical Allele Identifier: CA392973549

Gene: CLN6

Linked Data

• ClinVar Variation Id: 570925
• ClinVar RCV Id: RCV000691919
• dbSNP Id: rs1567095879
• MyVariant Identifiers: chr15:g.68504128G>A (hg19) ; chr15:g.68211790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211790G>A , CM000677.2:g.68211790G>A	GRCh38
NC_000015.9:g.68504128G>A , CM000677.1:g.68504128G>A	GRCh37
NC_000015.8:g.66291182G>A	NCBI36
NG_008764.2:g.50422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.371C>T MANE Select	ENSP00000249806.5:p.Ala124Val
ENST00000562767.2:c.84-14162C>T	ENSP00000456336.1:n.84-14162C>T
ENST00000563917.2:n.213C>T
ENST00000565471.6:c.84-2031C>T	ENSP00000457384.1:n.84-2031C>T
ENST00000635747.1:c.*274C>T	ENSP00000490627.1:n.*274C>T
ENST00000636212.1:c.298-49C>T	ENSP00000489851.1:n.298-49C>T
ENST00000636314.1:c.183-472C>T	ENSP00000490295.1:n.183-472C>T
ENST00000636674.1:n.1354C>T
ENST00000636964.1:n.1543C>T
ENST00000637054.1:c.198+6746C>T	ENSP00000490807.1:n.198+6746C>T
ENST00000637223.1:c.*201-472C>T	ENSP00000490010.1:n.*201-472C>T
ENST00000637329.1:c.340C>T
ENST00000637450.1:c.*25C>T	ENSP00000490204.1:n.*25C>T
ENST00000637494.1:c.199-472C>T	ENSP00000490057.1:n.199-472C>T
ENST00000637667.1:c.272C>T	ENSP00000489843.1:p.Ala91Val
ENST00000637823.1:c.224-147C>T
ENST00000637888.1:c.198+6746C>T	ENSP00000490546.1:n.198+6746C>T
ENST00000638076.1:c.371C>T	ENSP00000490373.1:p.Ala124Val
ENST00000638144.1:n.130-472C>T
ENST00000646164.1:c.38+6746C>T
ENST00000249806.9:c.371C>T	ENSP00000249806.5:p.Ala124Val
ENST00000538696.5:c.467C>T	ENSP00000445770.1:p.Ala156Val
ENST00000562767.1:c.84-14162C>T	ENSP00000456336.1:n.84-14162C>T
ENST00000563917.1:n.152C>T
ENST00000564752.1:c.371C>T	ENSP00000457822.1:p.Ala124Val
ENST00000565471.5:c.84-2031C>T	ENSP00000457384.1:n.84-2031C>T
ENST00000566347.5:c.298-472C>T	ENSP00000457783.1:n.298-472C>T
ENST00000567060.5:c.298-2070C>T	ENSP00000454818.1:n.298-2070C>T
NM_017882.2:c.371C>T	NP_060352.1:p.Ala124Val
XR_931861.1:n.474C>T
NM_017882.3:c.371C>T MANE Select	NP_060352.1:p.Ala124Val