Canonical Allele Identifier: CA392972143

Gene: CLN6

Linked Data

• ClinVar Variation Id: 431958
• ClinVar RCV Id: RCV000498748 ; RCV001203261
• dbSNP Id: rs1555438255
• MyVariant Identifiers: chr15:g.68500692A>G (hg19) ; chr15:g.68208354A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208354A>G , CM000677.2:g.68208354A>G	GRCh38
NC_000015.9:g.68500692A>G , CM000677.1:g.68500692A>G	GRCh37
NC_000015.8:g.66287746A>G	NCBI36
NG_008764.2:g.53858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.722T>C MANE Select	ENSP00000249806.5:p.Met241Thr
ENST00000562767.2:c.84-10726T>C	ENSP00000456336.1:n.84-10726T>C
ENST00000565471.6:c.263T>C	ENSP00000457384.1:p.Met88Thr
ENST00000635747.1:c.*625T>C	ENSP00000490627.1:n.*625T>C
ENST00000636212.1:c.*392T>C	ENSP00000489851.1:n.*392T>C
ENST00000636674.1:n.1824T>C
ENST00000636964.1:n.2250T>C
ENST00000637054.1:c.198+10182T>C	ENSP00000490807.1:n.198+10182T>C
ENST00000637329.1:c.691T>C
ENST00000637450.1:c.*376T>C	ENSP00000490204.1:n.*376T>C
ENST00000637494.1:c.434T>C	ENSP00000490057.1:p.Met145Thr
ENST00000637667.1:c.623T>C	ENSP00000489843.1:p.Met208Thr
ENST00000637823.1:c.547T>C
ENST00000637888.1:c.198+10182T>C	ENSP00000490546.1:n.198+10182T>C
ENST00000638076.1:c.*325T>C	ENSP00000490373.1:n.*325T>C
ENST00000638144.1:n.365T>C
ENST00000646164.1:c.39-8673T>C
ENST00000249806.9:c.722T>C	ENSP00000249806.5:p.Met241Thr
ENST00000538696.5:c.818T>C	ENSP00000445770.1:p.Met273Thr
ENST00000562767.1:c.84-10726T>C	ENSP00000456336.1:n.84-10726T>C
ENST00000564752.1:c.*106T>C	ENSP00000457822.1:n.*106T>C
ENST00000565471.5:c.263T>C	ENSP00000457384.1:p.Met88Thr
ENST00000566347.5:c.533T>C	ENSP00000457783.1:p.Met178Thr
ENST00000567060.5:c.*120T>C	ENSP00000454818.1:n.*120T>C
NM_017882.2:c.722T>C	NP_060352.1:p.Met241Thr
NM_017882.3:c.722T>C MANE Select	NP_060352.1:p.Met241Thr