Canonical Allele Identifier: CA392972365

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500740A>C (hg19) ; chr15:g.68208402A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208402A>C , CM000677.2:g.68208402A>C	GRCh38
NC_000015.9:g.68500740A>C , CM000677.1:g.68500740A>C	GRCh37
NC_000015.8:g.66287794A>C	NCBI36
NG_008764.2:g.53810T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.674T>G MANE Select	ENSP00000249806.5:p.Val225Gly
ENST00000562767.2:c.84-10774T>G	ENSP00000456336.1:n.84-10774T>G
ENST00000563917.2:n.516T>G
ENST00000565471.6:c.215T>G	ENSP00000457384.1:p.Val72Gly
ENST00000635747.1:c.*577T>G	ENSP00000490627.1:n.*577T>G
ENST00000636212.1:c.*344T>G	ENSP00000489851.1:n.*344T>G
ENST00000636674.1:n.1776T>G
ENST00000636964.1:n.2202T>G
ENST00000637054.1:c.198+10134T>G	ENSP00000490807.1:n.198+10134T>G
ENST00000637329.1:c.643T>G
ENST00000637450.1:c.*328T>G	ENSP00000490204.1:n.*328T>G
ENST00000637494.1:c.386T>G	ENSP00000490057.1:p.Val129Gly
ENST00000637667.1:c.575T>G	ENSP00000489843.1:p.Val192Gly
ENST00000637823.1:c.499T>G
ENST00000637888.1:c.198+10134T>G	ENSP00000490546.1:n.198+10134T>G
ENST00000638076.1:c.*277T>G	ENSP00000490373.1:n.*277T>G
ENST00000638144.1:n.317T>G
ENST00000646164.1:c.39-8721T>G
ENST00000249806.9:c.674T>G	ENSP00000249806.5:p.Val225Gly
ENST00000538696.5:c.770T>G	ENSP00000445770.1:p.Val257Gly
ENST00000562767.1:c.84-10774T>G	ENSP00000456336.1:n.84-10774T>G
ENST00000564752.1:c.*58T>G	ENSP00000457822.1:n.*58T>G
ENST00000565471.5:c.215T>G	ENSP00000457384.1:p.Val72Gly
ENST00000566347.5:c.485T>G	ENSP00000457783.1:p.Val162Gly
ENST00000567060.5:c.*72T>G	ENSP00000454818.1:n.*72T>G
NM_017882.2:c.674T>G	NP_060352.1:p.Val225Gly
XR_931861.1:n.896T>G
NM_017882.3:c.674T>G MANE Select	NP_060352.1:p.Val225Gly