Canonical Allele Identifier: CA392971940

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500624A>G (hg19) ; chr15:g.68208286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208286A>G , CM000677.2:g.68208286A>G	GRCh38
NC_000015.9:g.68500624A>G , CM000677.1:g.68500624A>G	GRCh37
NC_000015.8:g.66287678A>G	NCBI36
NG_008764.2:g.53926T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.790T>C MANE Select	ENSP00000249806.5:p.Ser264Pro
ENST00000562767.2:c.84-10658T>C	ENSP00000456336.1:n.84-10658T>C
ENST00000565471.6:c.331T>C	ENSP00000457384.1:p.Ser111Pro
ENST00000635747.1:c.*693T>C	ENSP00000490627.1:n.*693T>C
ENST00000636212.1:c.*460T>C	ENSP00000489851.1:n.*460T>C
ENST00000636674.1:n.1892T>C
ENST00000636964.1:n.2318T>C
ENST00000637054.1:c.198+10250T>C	ENSP00000490807.1:n.198+10250T>C
ENST00000637329.1:c.759T>C
ENST00000637450.1:c.*444T>C	ENSP00000490204.1:n.*444T>C
ENST00000637494.1:c.502T>C	ENSP00000490057.1:p.Ser168Pro
ENST00000637667.1:c.691T>C	ENSP00000489843.1:p.Ser231Pro
ENST00000637823.1:c.615T>C
ENST00000637888.1:c.198+10250T>C	ENSP00000490546.1:n.198+10250T>C
ENST00000638076.1:c.*393T>C	ENSP00000490373.1:n.*393T>C
ENST00000638144.1:n.433T>C
ENST00000646164.1:c.39-8605T>C
ENST00000249806.9:c.790T>C	ENSP00000249806.5:p.Ser264Pro
ENST00000538696.5:c.886T>C	ENSP00000445770.1:p.Ser296Pro
ENST00000562767.1:c.84-10658T>C	ENSP00000456336.1:n.84-10658T>C
ENST00000565471.5:c.331T>C	ENSP00000457384.1:p.Ser111Pro
ENST00000566347.5:c.601T>C	ENSP00000457783.1:p.Ser201Pro
ENST00000567060.5:c.*188T>C	ENSP00000454818.1:n.*188T>C
NM_017882.2:c.790T>C	NP_060352.1:p.Ser264Pro
NM_017882.3:c.790T>C MANE Select	NP_060352.1:p.Ser264Pro