Canonical Allele Identifier: CA392973029

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502083A>G (hg19) ; chr15:g.68209745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209745A>G , CM000677.2:g.68209745A>G	GRCh38
NC_000015.9:g.68502083A>G , CM000677.1:g.68502083A>G	GRCh37
NC_000015.8:g.66289137A>G	NCBI36
NG_008764.2:g.52467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.557T>C MANE Select	ENSP00000249806.5:p.Phe186Ser
ENST00000562767.2:c.84-12117T>C	ENSP00000456336.1:n.84-12117T>C
ENST00000563917.2:n.399T>C
ENST00000565471.6:c.98T>C	ENSP00000457384.1:p.Phe33Ser
ENST00000635747.1:c.*460T>C	ENSP00000490627.1:n.*460T>C
ENST00000636212.1:c.*227T>C	ENSP00000489851.1:n.*227T>C
ENST00000636314.1:c.253T>C	ENSP00000490295.1:p.Ser85Pro
ENST00000636674.1:n.1659T>C
ENST00000636964.1:n.2085T>C
ENST00000637054.1:c.198+8791T>C	ENSP00000490807.1:n.198+8791T>C
ENST00000637223.1:c.*271T>C	ENSP00000490010.1:n.*271T>C
ENST00000637329.1:c.526T>C
ENST00000637450.1:c.*211T>C	ENSP00000490204.1:n.*211T>C
ENST00000637494.1:c.269T>C	ENSP00000490057.1:p.Phe90Ser
ENST00000637667.1:c.458T>C	ENSP00000489843.1:p.Phe153Ser
ENST00000637823.1:c.382T>C
ENST00000637888.1:c.198+8791T>C	ENSP00000490546.1:n.198+8791T>C
ENST00000638076.1:c.*160T>C	ENSP00000490373.1:n.*160T>C
ENST00000638144.1:n.200T>C
ENST00000646164.1:c.38+8791T>C
ENST00000249806.9:c.557T>C	ENSP00000249806.5:p.Phe186Ser
ENST00000538696.5:c.653T>C	ENSP00000445770.1:p.Phe218Ser
ENST00000562767.1:c.84-12117T>C	ENSP00000456336.1:n.84-12117T>C
ENST00000563917.1:n.457T>C
ENST00000564752.1:c.583T>C	ENSP00000457822.1:p.Ser195Pro
ENST00000565471.5:c.98T>C	ENSP00000457384.1:p.Phe33Ser
ENST00000566347.5:c.368T>C	ENSP00000457783.1:p.Phe123Ser
ENST00000567060.5:c.298-25T>C	ENSP00000454818.1:n.298-25T>C
NM_017882.2:c.557T>C	NP_060352.1:p.Phe186Ser
XR_931861.1:n.779T>C
NM_017882.3:c.557T>C MANE Select	NP_060352.1:p.Phe186Ser