Canonical Allele Identifier: CA392972040

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500667C>G (hg19) ; chr15:g.68208329C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208329C>G , CM000677.2:g.68208329C>G	GRCh38
NC_000015.9:g.68500667C>G , CM000677.1:g.68500667C>G	GRCh37
NC_000015.8:g.66287721C>G	NCBI36
NG_008764.2:g.53883G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.747G>C MANE Select	ENSP00000249806.5:p.Lys249Asn
ENST00000562767.2:c.84-10701G>C	ENSP00000456336.1:n.84-10701G>C
ENST00000565471.6:c.288G>C	ENSP00000457384.1:p.Lys96Asn
ENST00000635747.1:c.*650G>C	ENSP00000490627.1:n.*650G>C
ENST00000636212.1:c.*417G>C	ENSP00000489851.1:n.*417G>C
ENST00000636674.1:n.1849G>C
ENST00000636964.1:n.2275G>C
ENST00000637054.1:c.198+10207G>C	ENSP00000490807.1:n.198+10207G>C
ENST00000637329.1:c.716G>C
ENST00000637450.1:c.*401G>C	ENSP00000490204.1:n.*401G>C
ENST00000637494.1:c.459G>C	ENSP00000490057.1:p.Lys153Asn
ENST00000637667.1:c.648G>C	ENSP00000489843.1:p.Lys216Asn
ENST00000637823.1:c.572G>C
ENST00000637888.1:c.198+10207G>C	ENSP00000490546.1:n.198+10207G>C
ENST00000638076.1:c.*350G>C	ENSP00000490373.1:n.*350G>C
ENST00000638144.1:n.390G>C
ENST00000646164.1:c.39-8648G>C
ENST00000249806.9:c.747G>C	ENSP00000249806.5:p.Lys249Asn
ENST00000538696.5:c.843G>C	ENSP00000445770.1:p.Lys281Asn
ENST00000562767.1:c.84-10701G>C	ENSP00000456336.1:n.84-10701G>C
ENST00000564752.1:c.*131G>C	ENSP00000457822.1:n.*131G>C
ENST00000565471.5:c.288G>C	ENSP00000457384.1:p.Lys96Asn
ENST00000566347.5:c.558G>C	ENSP00000457783.1:p.Lys186Asn
ENST00000567060.5:c.*145G>C	ENSP00000454818.1:n.*145G>C
NM_017882.2:c.747G>C	NP_060352.1:p.Lys249Asn
NM_017882.3:c.747G>C MANE Select	NP_060352.1:p.Lys249Asn