Canonical Allele Identifier: CA392971837

Gene: CLN6

Linked Data

• gnomAD v4: 15-68208247-C-T
• MyVariant Identifiers: chr15:g.68500585C>T (hg19) ; chr15:g.68208247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208247C>T , CM000677.2:g.68208247C>T	GRCh38
NC_000015.9:g.68500585C>T , CM000677.1:g.68500585C>T	GRCh37
NC_000015.8:g.66287639C>T	NCBI36
NG_008764.2:g.53965G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.829G>A MANE Select	ENSP00000249806.5:p.Val277Ile
ENST00000562767.2:c.84-10619G>A	ENSP00000456336.1:n.84-10619G>A
ENST00000565471.6:c.370G>A	ENSP00000457384.1:p.Val124Ile
ENST00000635747.1:c.*732G>A	ENSP00000490627.1:n.*732G>A
ENST00000636212.1:c.*499G>A	ENSP00000489851.1:n.*499G>A
ENST00000636674.1:n.1931G>A
ENST00000636964.1:n.2357G>A
ENST00000637054.1:c.198+10289G>A	ENSP00000490807.1:n.198+10289G>A
ENST00000637329.1:c.798G>A
ENST00000637450.1:c.*483G>A	ENSP00000490204.1:n.*483G>A
ENST00000637494.1:c.541G>A	ENSP00000490057.1:p.Val181Ile
ENST00000637667.1:c.730G>A	ENSP00000489843.1:p.Val244Ile
ENST00000637823.1:c.654G>A
ENST00000637888.1:c.198+10289G>A	ENSP00000490546.1:n.198+10289G>A
ENST00000638076.1:c.*432G>A	ENSP00000490373.1:n.*432G>A
ENST00000638144.1:n.472G>A
ENST00000646164.1:c.39-8566G>A
ENST00000249806.9:c.829G>A	ENSP00000249806.5:p.Val277Ile
ENST00000538696.5:c.925G>A	ENSP00000445770.1:p.Val309Ile
ENST00000562767.1:c.84-10619G>A	ENSP00000456336.1:n.84-10619G>A
ENST00000565471.5:c.370G>A	ENSP00000457384.1:p.Val124Ile
ENST00000566347.5:c.640G>A	ENSP00000457783.1:p.Val214Ile
ENST00000567060.5:c.*227G>A	ENSP00000454818.1:n.*227G>A
NM_017882.2:c.829G>A	NP_060352.1:p.Val277Ile
NM_017882.3:c.829G>A MANE Select	NP_060352.1:p.Val277Ile