Canonical Allele Identifier: CA392972780

Gene: CLN6

Linked Data

• dbSNP Id: rs1251507101
• gnomAD v2: 15-68501976-A-G
• gnomAD v4: 15-68209638-A-G
• MyVariant Identifiers: chr15:g.68501976A>G (hg19) ; chr15:g.68209638A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209638A>G , CM000677.2:g.68209638A>G	GRCh38
NC_000015.9:g.68501976A>G , CM000677.1:g.68501976A>G	GRCh37
NC_000015.8:g.66289030A>G	NCBI36
NG_008764.2:g.52574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.664T>C MANE Select	ENSP00000249806.5:p.Trp222Arg
ENST00000562767.2:c.84-12010T>C	ENSP00000456336.1:n.84-12010T>C
ENST00000563917.2:n.506T>C
ENST00000565471.6:c.205T>C	ENSP00000457384.1:p.Trp69Arg
ENST00000635747.1:c.*567T>C	ENSP00000490627.1:n.*567T>C
ENST00000636212.1:c.*334T>C	ENSP00000489851.1:n.*334T>C
ENST00000636674.1:n.1766T>C
ENST00000636964.1:n.2192T>C
ENST00000637054.1:c.198+8898T>C	ENSP00000490807.1:n.198+8898T>C
ENST00000637329.1:c.633T>C
ENST00000637450.1:c.*318T>C	ENSP00000490204.1:n.*318T>C
ENST00000637494.1:c.376T>C	ENSP00000490057.1:p.Trp126Arg
ENST00000637667.1:c.565T>C	ENSP00000489843.1:p.Trp189Arg
ENST00000637823.1:c.489T>C
ENST00000637888.1:c.198+8898T>C	ENSP00000490546.1:n.198+8898T>C
ENST00000638076.1:c.*267T>C	ENSP00000490373.1:n.*267T>C
ENST00000638144.1:n.307T>C
ENST00000646164.1:c.38+8898T>C
ENST00000249806.9:c.664T>C	ENSP00000249806.5:p.Trp222Arg
ENST00000538696.5:c.760T>C	ENSP00000445770.1:p.Trp254Arg
ENST00000562767.1:c.84-12010T>C	ENSP00000456336.1:n.84-12010T>C
ENST00000563917.1:n.564T>C
ENST00000564752.1:c.*48T>C	ENSP00000457822.1:n.*48T>C
ENST00000565471.5:c.205T>C	ENSP00000457384.1:p.Trp69Arg
ENST00000566347.5:c.475T>C	ENSP00000457783.1:p.Trp159Arg
ENST00000567060.5:c.*62T>C	ENSP00000454818.1:n.*62T>C
NM_017882.2:c.664T>C	NP_060352.1:p.Trp222Arg
XR_931861.1:n.886T>C
NM_017882.3:c.664T>C MANE Select	NP_060352.1:p.Trp222Arg