Canonical Allele Identifier: CA491099862

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2890093
• ClinVar RCV Id: RCV003648798
• MyVariant Identifiers: chr15:g.68500580G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208242G>A , CM000677.2:g.68208242G>A	GRCh38
NC_000015.9:g.68500580G>A , CM000677.1:g.68500580G>A	GRCh37
NC_000015.8:g.66287634G>A	NCBI36
NG_008764.2:g.53970C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.834C>T MANE Select	ENSP00000249806.5:p.Ala278=
ENST00000562767.2:c.84-10614C>T	ENSP00000456336.1:n.84-10614C>T
ENST00000565471.6:c.375C>T	ENSP00000457384.1:p.Ala125=
ENST00000635747.1:c.*737C>T	ENSP00000490627.1:n.*737C>T
ENST00000636212.1:c.*504C>T	ENSP00000489851.1:n.*504C>T
ENST00000636674.1:n.1936C>T
ENST00000636964.1:n.2362C>T
ENST00000637054.1:c.198+10294C>T	ENSP00000490807.1:n.198+10294C>T
ENST00000637329.1:c.803C>T
ENST00000637450.1:c.*488C>T	ENSP00000490204.1:n.*488C>T
ENST00000637494.1:c.546C>T	ENSP00000490057.1:p.Ala182=
ENST00000637667.1:c.735C>T	ENSP00000489843.1:p.Ala245=
ENST00000637823.1:c.659C>T
ENST00000637888.1:c.198+10294C>T	ENSP00000490546.1:n.198+10294C>T
ENST00000638076.1:c.*437C>T	ENSP00000490373.1:n.*437C>T
ENST00000638144.1:n.477C>T
ENST00000646164.1:c.39-8561C>T
ENST00000249806.9:c.834C>T	ENSP00000249806.5:p.Ala278=
ENST00000538696.5:c.930C>T	ENSP00000445770.1:p.Ala310=
ENST00000562767.1:c.84-10614C>T	ENSP00000456336.1:n.84-10614C>T
ENST00000565471.5:c.375C>T	ENSP00000457384.1:p.Ala125=
ENST00000566347.5:c.645C>T	ENSP00000457783.1:p.Ala215=
ENST00000567060.5:c.*232C>T	ENSP00000454818.1:n.*232C>T
NM_017882.2:c.834C>T	NP_060352.1:p.Ala278=
NM_017882.3:c.834C>T MANE Select	NP_060352.1:p.Ala278=