Canonical Allele Identifier: CA392973090

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68503603C>G (hg19) ; chr15:g.68211265C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211265C>G , CM000677.2:g.68211265C>G	GRCh38
NC_000015.9:g.68503603C>G , CM000677.1:g.68503603C>G	GRCh37
NC_000015.8:g.66290657C>G	NCBI36
NG_008764.2:g.50947G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.540G>C MANE Select	ENSP00000249806.5:p.Met180Ile
ENST00000562767.2:c.84-13637G>C	ENSP00000456336.1:n.84-13637G>C
ENST00000563917.2:n.382G>C
ENST00000565471.6:c.84-1506G>C	ENSP00000457384.1:n.84-1506G>C
ENST00000635747.1:c.*443G>C	ENSP00000490627.1:n.*443G>C
ENST00000636212.1:c.*210G>C	ENSP00000489851.1:n.*210G>C
ENST00000636314.1:c.236G>C	ENSP00000490295.1:p.Cys79Ser
ENST00000636674.1:n.1642G>C
ENST00000636964.1:n.2068G>C
ENST00000637054.1:c.198+7271G>C	ENSP00000490807.1:n.198+7271G>C
ENST00000637223.1:c.*254G>C	ENSP00000490010.1:n.*254G>C
ENST00000637329.1:c.509G>C
ENST00000637450.1:c.*194G>C	ENSP00000490204.1:n.*194G>C
ENST00000637494.1:c.252G>C	ENSP00000490057.1:p.Met84Ile
ENST00000637667.1:c.441G>C	ENSP00000489843.1:p.Met147Ile
ENST00000637823.1:c.365G>C
ENST00000637888.1:c.198+7271G>C	ENSP00000490546.1:n.198+7271G>C
ENST00000638076.1:c.*143G>C	ENSP00000490373.1:n.*143G>C
ENST00000638144.1:n.183G>C
ENST00000646164.1:c.38+7271G>C
ENST00000249806.9:c.540G>C	ENSP00000249806.5:p.Met180Ile
ENST00000538696.5:c.636G>C	ENSP00000445770.1:p.Met212Ile
ENST00000562767.1:c.84-13637G>C	ENSP00000456336.1:n.84-13637G>C
ENST00000563917.1:n.440G>C
ENST00000564752.1:c.566G>C	ENSP00000457822.1:p.Cys189Ser
ENST00000565471.5:c.84-1506G>C	ENSP00000457384.1:n.84-1506G>C
ENST00000566347.5:c.351G>C	ENSP00000457783.1:p.Met117Ile
ENST00000567060.5:c.298-1545G>C	ENSP00000454818.1:n.298-1545G>C
NM_017882.2:c.540G>C	NP_060352.1:p.Met180Ile
XR_931861.1:n.762G>C
NM_017882.3:c.540G>C MANE Select	NP_060352.1:p.Met180Ile