Canonical Allele Identifier: CA392972921

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502042A>G (hg19) ; chr15:g.68209704A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209704A>G , CM000677.2:g.68209704A>G	GRCh38
NC_000015.9:g.68502042A>G , CM000677.1:g.68502042A>G	GRCh37
NC_000015.8:g.66289096A>G	NCBI36
NG_008764.2:g.52508T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.598T>C MANE Select	ENSP00000249806.5:p.Ser200Pro
ENST00000562767.2:c.84-12076T>C	ENSP00000456336.1:n.84-12076T>C
ENST00000563917.2:n.440T>C
ENST00000565471.6:c.139T>C	ENSP00000457384.1:p.Ser47Pro
ENST00000635747.1:c.*501T>C	ENSP00000490627.1:n.*501T>C
ENST00000636212.1:c.*268T>C	ENSP00000489851.1:n.*268T>C
ENST00000636314.1:c.294T>C	ENSP00000490295.1:p.Pro98=
ENST00000636674.1:n.1700T>C
ENST00000636964.1:n.2126T>C
ENST00000637054.1:c.198+8832T>C	ENSP00000490807.1:n.198+8832T>C
ENST00000637223.1:c.*312T>C	ENSP00000490010.1:n.*312T>C
ENST00000637329.1:c.567T>C
ENST00000637450.1:c.*252T>C	ENSP00000490204.1:n.*252T>C
ENST00000637494.1:c.310T>C	ENSP00000490057.1:p.Ser104Pro
ENST00000637667.1:c.499T>C	ENSP00000489843.1:p.Ser167Pro
ENST00000637823.1:c.423T>C
ENST00000637888.1:c.198+8832T>C	ENSP00000490546.1:n.198+8832T>C
ENST00000638076.1:c.*201T>C	ENSP00000490373.1:n.*201T>C
ENST00000638144.1:n.241T>C
ENST00000646164.1:c.38+8832T>C
ENST00000249806.9:c.598T>C	ENSP00000249806.5:p.Ser200Pro
ENST00000538696.5:c.694T>C	ENSP00000445770.1:p.Ser232Pro
ENST00000562767.1:c.84-12076T>C	ENSP00000456336.1:n.84-12076T>C
ENST00000563917.1:n.498T>C
ENST00000564752.1:c.624T>C	ENSP00000457822.1:p.Pro208=
ENST00000565471.5:c.139T>C	ENSP00000457384.1:p.Ser47Pro
ENST00000566347.5:c.409T>C	ENSP00000457783.1:p.Ser137Pro
ENST00000567060.5:c.314T>C	ENSP00000454818.1:p.Leu105Pro
NM_017882.2:c.598T>C	NP_060352.1:p.Ser200Pro
XR_931861.1:n.820T>C
NM_017882.3:c.598T>C MANE Select	NP_060352.1:p.Ser200Pro