Canonical Allele Identifier: CA392972791

Gene: CLN6

Linked Data

• ClinVar Variation Id: 870555
• ClinVar RCV Id: RCV001090115
• dbSNP Id: rs2093198812
• MyVariant Identifiers: chr15:g.68501981T>G (hg19) ; chr15:g.68209643T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209643T>G , CM000677.2:g.68209643T>G	GRCh38
NC_000015.9:g.68501981T>G , CM000677.1:g.68501981T>G	GRCh37
NC_000015.8:g.66289035T>G	NCBI36
NG_008764.2:g.52569A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.659A>C MANE Select	ENSP00000249806.5:p.Tyr220Ser
ENST00000562767.2:c.84-12015A>C	ENSP00000456336.1:n.84-12015A>C
ENST00000563917.2:n.501A>C
ENST00000565471.6:c.200A>C	ENSP00000457384.1:p.Tyr67Ser
ENST00000635747.1:c.*562A>C	ENSP00000490627.1:n.*562A>C
ENST00000636212.1:c.*329A>C	ENSP00000489851.1:n.*329A>C
ENST00000636674.1:n.1761A>C
ENST00000636964.1:n.2187A>C
ENST00000637054.1:c.198+8893A>C	ENSP00000490807.1:n.198+8893A>C
ENST00000637329.1:c.628A>C
ENST00000637450.1:c.*313A>C	ENSP00000490204.1:n.*313A>C
ENST00000637494.1:c.371A>C	ENSP00000490057.1:p.Tyr124Ser
ENST00000637667.1:c.560A>C	ENSP00000489843.1:p.Tyr187Ser
ENST00000637823.1:c.484A>C
ENST00000637888.1:c.198+8893A>C	ENSP00000490546.1:n.198+8893A>C
ENST00000638076.1:c.*262A>C	ENSP00000490373.1:n.*262A>C
ENST00000638144.1:n.302A>C
ENST00000646164.1:c.38+8893A>C
ENST00000249806.9:c.659A>C	ENSP00000249806.5:p.Tyr220Ser
ENST00000538696.5:c.755A>C	ENSP00000445770.1:p.Tyr252Ser
ENST00000562767.1:c.84-12015A>C	ENSP00000456336.1:n.84-12015A>C
ENST00000563917.1:n.559A>C
ENST00000564752.1:c.*43A>C	ENSP00000457822.1:n.*43A>C
ENST00000565471.5:c.200A>C	ENSP00000457384.1:p.Tyr67Ser
ENST00000566347.5:c.470A>C	ENSP00000457783.1:p.Tyr157Ser
ENST00000567060.5:c.*57A>C	ENSP00000454818.1:n.*57A>C
NM_017882.2:c.659A>C	NP_060352.1:p.Tyr220Ser
XR_931861.1:n.881A>C
NM_017882.3:c.659A>C MANE Select	NP_060352.1:p.Tyr220Ser