Canonical Allele Identifier: CA392975488

Gene: CLN6

Linked Data

• dbSNP Id: rs1430705796
• gnomAD v2: 15-68510876-T-A
• gnomAD v3: 15-68218538-T-A
• gnomAD v4: 15-68218538-T-A
• MyVariant Identifiers: chr15:g.68510876T>A (hg19) ; chr15:g.68510876_68510877delinsAG (hg19) ; chr15:g.68218538T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68218538T>A , CM000677.2:g.68218538T>A	GRCh38
NC_000015.9:g.68510876T>A , CM000677.1:g.68510876T>A	GRCh37
NC_000015.8:g.66297930T>A	NCBI36
NG_008764.2:g.43674A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.196A>T MANE Select	ENSP00000249806.5:p.Met66Leu
ENST00000562767.2:c.83+10964A>T	ENSP00000456336.1:n.83+10964A>T
ENST00000563917.2:n.41-4150A>T
ENST00000565471.6:c.84-8779A>T	ENSP00000457384.1:n.84-8779A>T
ENST00000569336.2:n.105A>T
ENST00000635747.1:c.*99A>T	ENSP00000490627.1:n.*99A>T
ENST00000636020.1:n.328A>T
ENST00000636212.1:c.196A>T	ENSP00000489851.1:p.Met66Leu
ENST00000636314.1:c.84-4150A>T	ENSP00000490295.1:n.84-4150A>T
ENST00000637054.1:c.196A>T	ENSP00000490807.1:p.Met66Leu
ENST00000637223.1:c.*99A>T	ENSP00000490010.1:n.*99A>T
ENST00000637329.1:c.107A>T
ENST00000637450.1:c.84-4150A>T	ENSP00000490204.1:n.84-4150A>T
ENST00000637494.1:c.196A>T	ENSP00000490057.1:p.Met66Leu
ENST00000637667.1:c.196A>T	ENSP00000489843.1:p.Met66Leu
ENST00000637823.1:c.122A>T
ENST00000637888.1:c.196A>T	ENSP00000490546.1:p.Met66Leu
ENST00000638076.1:c.196A>T	ENSP00000490373.1:p.Met66Leu
ENST00000638144.1:n.31-4150A>T
ENST00000646164.1:c.36A>T
ENST00000249806.9:c.196A>T	ENSP00000249806.5:p.Met66Leu
ENST00000538696.5:c.292A>T	ENSP00000445770.1:p.Met98Leu
ENST00000562767.1:c.83+10964A>T	ENSP00000456336.1:n.83+10964A>T
ENST00000564752.1:c.196A>T	ENSP00000457822.1:p.Met66Leu
ENST00000564846.1:n.628A>T
ENST00000565471.5:c.84-8779A>T	ENSP00000457384.1:n.84-8779A>T
ENST00000566347.5:c.196A>T	ENSP00000457783.1:p.Met66Leu
ENST00000567060.5:c.196A>T	ENSP00000454818.1:p.Met66Leu
ENST00000569336.1:n.282A>T
NM_017882.2:c.196A>T	NP_060352.1:p.Met66Leu
XR_931861.1:n.299A>T
NM_017882.3:c.196A>T MANE Select	NP_060352.1:p.Met66Leu