Canonical Allele Identifier: CA392972178

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500699A>G (hg19) ; chr15:g.68208361A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208361A>G , CM000677.2:g.68208361A>G	GRCh38
NC_000015.9:g.68500699A>G , CM000677.1:g.68500699A>G	GRCh37
NC_000015.8:g.66287753A>G	NCBI36
NG_008764.2:g.53851T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.715T>C MANE Select	ENSP00000249806.5:p.Phe239Leu
ENST00000562767.2:c.84-10733T>C	ENSP00000456336.1:n.84-10733T>C
ENST00000563917.2:n.557T>C
ENST00000565471.6:c.256T>C	ENSP00000457384.1:p.Phe86Leu
ENST00000635747.1:c.*618T>C	ENSP00000490627.1:n.*618T>C
ENST00000636212.1:c.*385T>C	ENSP00000489851.1:n.*385T>C
ENST00000636674.1:n.1817T>C
ENST00000636964.1:n.2243T>C
ENST00000637054.1:c.198+10175T>C	ENSP00000490807.1:n.198+10175T>C
ENST00000637329.1:c.684T>C
ENST00000637450.1:c.*369T>C	ENSP00000490204.1:n.*369T>C
ENST00000637494.1:c.427T>C	ENSP00000490057.1:p.Phe143Leu
ENST00000637667.1:c.616T>C	ENSP00000489843.1:p.Phe206Leu
ENST00000637823.1:c.540T>C
ENST00000637888.1:c.198+10175T>C	ENSP00000490546.1:n.198+10175T>C
ENST00000638076.1:c.*318T>C	ENSP00000490373.1:n.*318T>C
ENST00000638144.1:n.358T>C
ENST00000646164.1:c.39-8680T>C
ENST00000249806.9:c.715T>C	ENSP00000249806.5:p.Phe239Leu
ENST00000538696.5:c.811T>C	ENSP00000445770.1:p.Phe271Leu
ENST00000562767.1:c.84-10733T>C	ENSP00000456336.1:n.84-10733T>C
ENST00000564752.1:c.*99T>C	ENSP00000457822.1:n.*99T>C
ENST00000565471.5:c.256T>C	ENSP00000457384.1:p.Phe86Leu
ENST00000566347.5:c.526T>C	ENSP00000457783.1:p.Phe176Leu
ENST00000567060.5:c.*113T>C	ENSP00000454818.1:n.*113T>C
NM_017882.2:c.715T>C	NP_060352.1:p.Phe239Leu
NM_017882.3:c.715T>C MANE Select	NP_060352.1:p.Phe239Leu