Canonical Allele Identifier: CA392972826

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501999A>G (hg19) ; chr15:g.68209661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209661A>G , CM000677.2:g.68209661A>G	GRCh38
NC_000015.9:g.68501999A>G , CM000677.1:g.68501999A>G	GRCh37
NC_000015.8:g.66289053A>G	NCBI36
NG_008764.2:g.52551T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.641T>C MANE Select	ENSP00000249806.5:p.Val214Ala
ENST00000562767.2:c.84-12033T>C	ENSP00000456336.1:n.84-12033T>C
ENST00000563917.2:n.483T>C
ENST00000565471.6:c.182T>C	ENSP00000457384.1:p.Val61Ala
ENST00000635747.1:c.*544T>C	ENSP00000490627.1:n.*544T>C
ENST00000636212.1:c.*311T>C	ENSP00000489851.1:n.*311T>C
ENST00000636674.1:n.1743T>C
ENST00000636964.1:n.2169T>C
ENST00000637054.1:c.198+8875T>C	ENSP00000490807.1:n.198+8875T>C
ENST00000637329.1:c.610T>C
ENST00000637450.1:c.*295T>C	ENSP00000490204.1:n.*295T>C
ENST00000637494.1:c.353T>C	ENSP00000490057.1:p.Val118Ala
ENST00000637667.1:c.542T>C	ENSP00000489843.1:p.Val181Ala
ENST00000637823.1:c.466T>C
ENST00000637888.1:c.198+8875T>C	ENSP00000490546.1:n.198+8875T>C
ENST00000638076.1:c.*244T>C	ENSP00000490373.1:n.*244T>C
ENST00000638144.1:n.284T>C
ENST00000646164.1:c.38+8875T>C
ENST00000249806.9:c.641T>C	ENSP00000249806.5:p.Val214Ala
ENST00000538696.5:c.737T>C	ENSP00000445770.1:p.Val246Ala
ENST00000562767.1:c.84-12033T>C	ENSP00000456336.1:n.84-12033T>C
ENST00000563917.1:n.541T>C
ENST00000564752.1:c.*25T>C	ENSP00000457822.1:n.*25T>C
ENST00000565471.5:c.182T>C	ENSP00000457384.1:p.Val61Ala
ENST00000566347.5:c.452T>C	ENSP00000457783.1:p.Val151Ala
ENST00000567060.5:c.*39T>C	ENSP00000454818.1:n.*39T>C
NM_017882.2:c.641T>C	NP_060352.1:p.Val214Ala
XR_931861.1:n.863T>C
NM_017882.3:c.641T>C MANE Select	NP_060352.1:p.Val214Ala