Canonical Allele Identifier: CA392972800

Gene: CLN6

Linked Data

• ClinVar Variation Id: 864779
• ClinVar RCV Id: RCV001072046
• dbSNP Id: rs1160988895
• MyVariant Identifiers: chr15:g.68501987C>A (hg19) ; chr15:g.68209649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209649C>A , CM000677.2:g.68209649C>A	GRCh38
NC_000015.9:g.68501987C>A , CM000677.1:g.68501987C>A	GRCh37
NC_000015.8:g.66289041C>A	NCBI36
NG_008764.2:g.52563G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.653G>T MANE Select	ENSP00000249806.5:p.Gly218Val
ENST00000562767.2:c.84-12021G>T	ENSP00000456336.1:n.84-12021G>T
ENST00000563917.2:n.495G>T
ENST00000565471.6:c.194G>T	ENSP00000457384.1:p.Gly65Val
ENST00000635747.1:c.*556G>T	ENSP00000490627.1:n.*556G>T
ENST00000636212.1:c.*323G>T	ENSP00000489851.1:n.*323G>T
ENST00000636674.1:n.1755G>T
ENST00000636964.1:n.2181G>T
ENST00000637054.1:c.198+8887G>T	ENSP00000490807.1:n.198+8887G>T
ENST00000637329.1:c.622G>T
ENST00000637450.1:c.*307G>T	ENSP00000490204.1:n.*307G>T
ENST00000637494.1:c.365G>T	ENSP00000490057.1:p.Gly122Val
ENST00000637667.1:c.554G>T	ENSP00000489843.1:p.Gly185Val
ENST00000637823.1:c.478G>T
ENST00000637888.1:c.198+8887G>T	ENSP00000490546.1:n.198+8887G>T
ENST00000638076.1:c.*256G>T	ENSP00000490373.1:n.*256G>T
ENST00000638144.1:n.296G>T
ENST00000646164.1:c.38+8887G>T
ENST00000249806.9:c.653G>T	ENSP00000249806.5:p.Gly218Val
ENST00000538696.5:c.749G>T	ENSP00000445770.1:p.Gly250Val
ENST00000562767.1:c.84-12021G>T	ENSP00000456336.1:n.84-12021G>T
ENST00000563917.1:n.553G>T
ENST00000564752.1:c.*37G>T	ENSP00000457822.1:n.*37G>T
ENST00000565471.5:c.194G>T	ENSP00000457384.1:p.Gly65Val
ENST00000566347.5:c.464G>T	ENSP00000457783.1:p.Gly155Val
ENST00000567060.5:c.*51G>T	ENSP00000454818.1:n.*51G>T
NM_017882.2:c.653G>T	NP_060352.1:p.Gly218Val
XR_931861.1:n.875G>T
NM_017882.3:c.653G>T MANE Select	NP_060352.1:p.Gly218Val