Canonical Allele Identifier: CA392972018

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68500661C>G (hg19) ; chr15:g.68208323C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208323C>G , CM000677.2:g.68208323C>G	GRCh38
NC_000015.9:g.68500661C>G , CM000677.1:g.68500661C>G	GRCh37
NC_000015.8:g.66287715C>G	NCBI36
NG_008764.2:g.53889G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.753G>C MANE Select	ENSP00000249806.5:p.Lys251Asn
ENST00000562767.2:c.84-10695G>C	ENSP00000456336.1:n.84-10695G>C
ENST00000565471.6:c.294G>C	ENSP00000457384.1:p.Lys98Asn
ENST00000635747.1:c.*656G>C	ENSP00000490627.1:n.*656G>C
ENST00000636212.1:c.*423G>C	ENSP00000489851.1:n.*423G>C
ENST00000636674.1:n.1855G>C
ENST00000636964.1:n.2281G>C
ENST00000637054.1:c.198+10213G>C	ENSP00000490807.1:n.198+10213G>C
ENST00000637329.1:c.722G>C
ENST00000637450.1:c.*407G>C	ENSP00000490204.1:n.*407G>C
ENST00000637494.1:c.465G>C	ENSP00000490057.1:p.Lys155Asn
ENST00000637667.1:c.654G>C	ENSP00000489843.1:p.Lys218Asn
ENST00000637823.1:c.578G>C
ENST00000637888.1:c.198+10213G>C	ENSP00000490546.1:n.198+10213G>C
ENST00000638076.1:c.*356G>C	ENSP00000490373.1:n.*356G>C
ENST00000638144.1:n.396G>C
ENST00000646164.1:c.39-8642G>C
ENST00000249806.9:c.753G>C	ENSP00000249806.5:p.Lys251Asn
ENST00000538696.5:c.849G>C	ENSP00000445770.1:p.Lys283Asn
ENST00000562767.1:c.84-10695G>C	ENSP00000456336.1:n.84-10695G>C
ENST00000565471.5:c.294G>C	ENSP00000457384.1:p.Lys98Asn
ENST00000566347.5:c.564G>C	ENSP00000457783.1:p.Lys188Asn
ENST00000567060.5:c.*151G>C	ENSP00000454818.1:n.*151G>C
NM_017882.2:c.753G>C	NP_060352.1:p.Lys251Asn
NM_017882.3:c.753G>C MANE Select	NP_060352.1:p.Lys251Asn