Canonical Allele Identifier: CA392973460

Gene: CLN6

Linked Data

• gnomAD v4: 15-68211748-A-G
• MyVariant Identifiers: chr15:g.68504086A>G (hg19) ; chr15:g.68211748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211748A>G , CM000677.2:g.68211748A>G	GRCh38
NC_000015.9:g.68504086A>G , CM000677.1:g.68504086A>G	GRCh37
NC_000015.8:g.66291140A>G	NCBI36
NG_008764.2:g.50464T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.413T>C MANE Select	ENSP00000249806.5:p.Leu138Pro
ENST00000562767.2:c.84-14120T>C	ENSP00000456336.1:n.84-14120T>C
ENST00000563917.2:n.255T>C
ENST00000565471.6:c.84-1989T>C	ENSP00000457384.1:n.84-1989T>C
ENST00000635747.1:c.*316T>C	ENSP00000490627.1:n.*316T>C
ENST00000636212.1:c.298-7T>C	ENSP00000489851.1:n.298-7T>C
ENST00000636314.1:c.183-430T>C	ENSP00000490295.1:n.183-430T>C
ENST00000636674.1:n.1396T>C
ENST00000636964.1:n.1585T>C
ENST00000637054.1:c.198+6788T>C	ENSP00000490807.1:n.198+6788T>C
ENST00000637223.1:c.*201-430T>C	ENSP00000490010.1:n.*201-430T>C
ENST00000637329.1:c.382T>C
ENST00000637450.1:c.*67T>C	ENSP00000490204.1:n.*67T>C
ENST00000637494.1:c.199-430T>C	ENSP00000490057.1:n.199-430T>C
ENST00000637667.1:c.314T>C	ENSP00000489843.1:p.Leu105Pro
ENST00000637823.1:c.224-105T>C
ENST00000637888.1:c.198+6788T>C	ENSP00000490546.1:n.198+6788T>C
ENST00000638076.1:c.413T>C	ENSP00000490373.1:p.Leu138Pro
ENST00000638144.1:n.130-430T>C
ENST00000646164.1:c.38+6788T>C
ENST00000249806.9:c.413T>C	ENSP00000249806.5:p.Leu138Pro
ENST00000538696.5:c.509T>C	ENSP00000445770.1:p.Leu170Pro
ENST00000562767.1:c.84-14120T>C	ENSP00000456336.1:n.84-14120T>C
ENST00000563917.1:n.194T>C
ENST00000564752.1:c.413T>C	ENSP00000457822.1:p.Leu138Pro
ENST00000565471.5:c.84-1989T>C	ENSP00000457384.1:n.84-1989T>C
ENST00000566347.5:c.298-430T>C	ENSP00000457783.1:n.298-430T>C
ENST00000567060.5:c.298-2028T>C	ENSP00000454818.1:n.298-2028T>C
NM_017882.2:c.413T>C	NP_060352.1:p.Leu138Pro
XR_931861.1:n.516T>C
NM_017882.3:c.413T>C MANE Select	NP_060352.1:p.Leu138Pro