Canonical Allele Identifier: CA392972949

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502053C>G (hg19) ; chr15:g.68209715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209715C>G , CM000677.2:g.68209715C>G	GRCh38
NC_000015.9:g.68502053C>G , CM000677.1:g.68502053C>G	GRCh37
NC_000015.8:g.66289107C>G	NCBI36
NG_008764.2:g.52497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.587G>C MANE Select	ENSP00000249806.5:p.Cys196Ser
ENST00000562767.2:c.84-12087G>C	ENSP00000456336.1:n.84-12087G>C
ENST00000563917.2:n.429G>C
ENST00000565471.6:c.128G>C	ENSP00000457384.1:p.Cys43Ser
ENST00000635747.1:c.*490G>C	ENSP00000490627.1:n.*490G>C
ENST00000636212.1:c.*257G>C	ENSP00000489851.1:n.*257G>C
ENST00000636314.1:c.283G>C	ENSP00000490295.1:p.Ala95Pro
ENST00000636674.1:n.1689G>C
ENST00000636964.1:n.2115G>C
ENST00000637054.1:c.198+8821G>C	ENSP00000490807.1:n.198+8821G>C
ENST00000637223.1:c.*301G>C	ENSP00000490010.1:n.*301G>C
ENST00000637329.1:c.556G>C
ENST00000637450.1:c.*241G>C	ENSP00000490204.1:n.*241G>C
ENST00000637494.1:c.299G>C	ENSP00000490057.1:p.Cys100Ser
ENST00000637667.1:c.488G>C	ENSP00000489843.1:p.Cys163Ser
ENST00000637823.1:c.412G>C
ENST00000637888.1:c.198+8821G>C	ENSP00000490546.1:n.198+8821G>C
ENST00000638076.1:c.*190G>C	ENSP00000490373.1:n.*190G>C
ENST00000638144.1:n.230G>C
ENST00000646164.1:c.38+8821G>C
ENST00000249806.9:c.587G>C	ENSP00000249806.5:p.Cys196Ser
ENST00000538696.5:c.683G>C	ENSP00000445770.1:p.Cys228Ser
ENST00000562767.1:c.84-12087G>C	ENSP00000456336.1:n.84-12087G>C
ENST00000563917.1:n.487G>C
ENST00000564752.1:c.613G>C	ENSP00000457822.1:p.Ala205Pro
ENST00000565471.5:c.128G>C	ENSP00000457384.1:p.Cys43Ser
ENST00000566347.5:c.398G>C	ENSP00000457783.1:p.Cys133Ser
ENST00000567060.5:c.303G>C	ENSP00000454818.1:p.Leu101=
NM_017882.2:c.587G>C	NP_060352.1:p.Cys196Ser
XR_931861.1:n.809G>C
NM_017882.3:c.587G>C MANE Select	NP_060352.1:p.Cys196Ser