Canonical Allele Identifier: CA392971801

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500575A>G (hg19) ; chr15:g.68208237A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208237A>G , CM000677.2:g.68208237A>G	GRCh38
NC_000015.9:g.68500575A>G , CM000677.1:g.68500575A>G	GRCh37
NC_000015.8:g.66287629A>G	NCBI36
NG_008764.2:g.53975T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.839T>C MANE Select	ENSP00000249806.5:p.Leu280Pro
ENST00000562767.2:c.84-10609T>C	ENSP00000456336.1:n.84-10609T>C
ENST00000565471.6:c.380T>C	ENSP00000457384.1:p.Leu127Pro
ENST00000635747.1:c.*742T>C	ENSP00000490627.1:n.*742T>C
ENST00000636212.1:c.*509T>C	ENSP00000489851.1:n.*509T>C
ENST00000636674.1:n.1941T>C
ENST00000636964.1:n.2367T>C
ENST00000637054.1:c.198+10299T>C	ENSP00000490807.1:n.198+10299T>C
ENST00000637329.1:c.808T>C
ENST00000637450.1:c.*493T>C	ENSP00000490204.1:n.*493T>C
ENST00000637494.1:c.551T>C	ENSP00000490057.1:p.Leu184Pro
ENST00000637667.1:c.740T>C	ENSP00000489843.1:p.Leu247Pro
ENST00000637823.1:c.664T>C
ENST00000637888.1:c.198+10299T>C	ENSP00000490546.1:n.198+10299T>C
ENST00000638076.1:c.*442T>C	ENSP00000490373.1:n.*442T>C
ENST00000638144.1:n.482T>C
ENST00000646164.1:c.39-8556T>C
ENST00000249806.9:c.839T>C	ENSP00000249806.5:p.Leu280Pro
ENST00000538696.5:c.935T>C	ENSP00000445770.1:p.Leu312Pro
ENST00000562767.1:c.84-10609T>C	ENSP00000456336.1:n.84-10609T>C
ENST00000565471.5:c.380T>C	ENSP00000457384.1:p.Leu127Pro
ENST00000566347.5:c.650T>C	ENSP00000457783.1:p.Leu217Pro
ENST00000567060.5:c.*237T>C	ENSP00000454818.1:n.*237T>C
NM_017882.2:c.839T>C	NP_060352.1:p.Leu280Pro
NM_017882.3:c.839T>C MANE Select	NP_060352.1:p.Leu280Pro