Canonical Allele Identifier: CA392972818

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68501994G>A (hg19) ; chr15:g.68209656G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209656G>A , CM000677.2:g.68209656G>A	GRCh38
NC_000015.9:g.68501994G>A , CM000677.1:g.68501994G>A	GRCh37
NC_000015.8:g.66289048G>A	NCBI36
NG_008764.2:g.52556C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.646C>T MANE Select	ENSP00000249806.5:p.Pro216Ser
ENST00000562767.2:c.84-12028C>T	ENSP00000456336.1:n.84-12028C>T
ENST00000563917.2:n.488C>T
ENST00000565471.6:c.187C>T	ENSP00000457384.1:p.Pro63Ser
ENST00000635747.1:c.*549C>T	ENSP00000490627.1:n.*549C>T
ENST00000636212.1:c.*316C>T	ENSP00000489851.1:n.*316C>T
ENST00000636674.1:n.1748C>T
ENST00000636964.1:n.2174C>T
ENST00000637054.1:c.198+8880C>T	ENSP00000490807.1:n.198+8880C>T
ENST00000637329.1:c.615C>T
ENST00000637450.1:c.*300C>T	ENSP00000490204.1:n.*300C>T
ENST00000637494.1:c.358C>T	ENSP00000490057.1:p.Pro120Ser
ENST00000637667.1:c.547C>T	ENSP00000489843.1:p.Pro183Ser
ENST00000637823.1:c.471C>T
ENST00000637888.1:c.198+8880C>T	ENSP00000490546.1:n.198+8880C>T
ENST00000638076.1:c.*249C>T	ENSP00000490373.1:n.*249C>T
ENST00000638144.1:n.289C>T
ENST00000646164.1:c.38+8880C>T
ENST00000249806.9:c.646C>T	ENSP00000249806.5:p.Pro216Ser
ENST00000538696.5:c.742C>T	ENSP00000445770.1:p.Pro248Ser
ENST00000562767.1:c.84-12028C>T	ENSP00000456336.1:n.84-12028C>T
ENST00000563917.1:n.546C>T
ENST00000564752.1:c.*30C>T	ENSP00000457822.1:n.*30C>T
ENST00000565471.5:c.187C>T	ENSP00000457384.1:p.Pro63Ser
ENST00000566347.5:c.457C>T	ENSP00000457783.1:p.Pro153Ser
ENST00000567060.5:c.*44C>T	ENSP00000454818.1:n.*44C>T
NM_017882.2:c.646C>T	NP_060352.1:p.Pro216Ser
XR_931861.1:n.868C>T
NM_017882.3:c.646C>T MANE Select	NP_060352.1:p.Pro216Ser