Canonical Allele Identifier: CA392974316

Gene: CLN6

Linked Data

• gnomAD v4: 15-68214294-A-G
• MyVariant Identifiers: chr15:g.68506632A>G (hg19) ; chr15:g.68214294A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68214294A>G , CM000677.2:g.68214294A>G	GRCh38
NC_000015.9:g.68506632A>G , CM000677.1:g.68506632A>G	GRCh37
NC_000015.8:g.66293686A>G	NCBI36
NG_008764.2:g.47918T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.293T>C MANE Select	ENSP00000249806.5:p.Leu98Pro
ENST00000562767.2:c.83+15208T>C	ENSP00000456336.1:n.83+15208T>C
ENST00000563917.2:n.135T>C
ENST00000565471.6:c.84-4535T>C	ENSP00000457384.1:n.84-4535T>C
ENST00000635747.1:c.*196T>C	ENSP00000490627.1:n.*196T>C
ENST00000635754.1:n.1315T>C
ENST00000636020.1:n.425T>C
ENST00000636212.1:c.293T>C	ENSP00000489851.1:p.Leu98Pro
ENST00000636314.1:c.178T>C	ENSP00000490295.1:p.Ser60Pro
ENST00000637054.1:c.198+4242T>C	ENSP00000490807.1:n.198+4242T>C
ENST00000637223.1:c.*196T>C	ENSP00000490010.1:n.*196T>C
ENST00000637329.1:c.204T>C
ENST00000637450.1:c.178T>C	ENSP00000490204.1:p.Ser60Pro
ENST00000637494.1:c.199-2976T>C	ENSP00000490057.1:n.199-2976T>C
ENST00000637667.1:c.199-2431T>C	ENSP00000489843.1:n.199-2431T>C
ENST00000637823.1:c.219T>C
ENST00000637888.1:c.198+4242T>C	ENSP00000490546.1:n.198+4242T>C
ENST00000638076.1:c.293T>C	ENSP00000490373.1:p.Leu98Pro
ENST00000638144.1:n.125T>C
ENST00000646164.1:c.38+4242T>C
ENST00000249806.9:c.293T>C	ENSP00000249806.5:p.Leu98Pro
ENST00000538696.5:c.389T>C	ENSP00000445770.1:p.Leu130Pro
ENST00000562767.1:c.83+15208T>C	ENSP00000456336.1:n.83+15208T>C
ENST00000563917.1:n.74T>C
ENST00000564752.1:c.293T>C	ENSP00000457822.1:p.Leu98Pro
ENST00000564846.1:n.725T>C
ENST00000565471.5:c.84-4535T>C	ENSP00000457384.1:n.84-4535T>C
ENST00000566347.5:c.293T>C	ENSP00000457783.1:p.Leu98Pro
ENST00000567060.5:c.293T>C	ENSP00000454818.1:p.Leu98Pro
NM_017882.2:c.293T>C	NP_060352.1:p.Leu98Pro
XR_931861.1:n.396T>C
NM_017882.3:c.293T>C MANE Select	NP_060352.1:p.Leu98Pro