Canonical Allele Identifier: CA392972927

Gene: CLN6

Linked Data

• MyVariant Identifiers: chr15:g.68502045C>G (hg19) ; chr15:g.68209707C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209707C>G , CM000677.2:g.68209707C>G	GRCh38
NC_000015.9:g.68502045C>G , CM000677.1:g.68502045C>G	GRCh37
NC_000015.8:g.66289099C>G	NCBI36
NG_008764.2:g.52505G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.595G>C MANE Select	ENSP00000249806.5:p.Ala199Pro
ENST00000562767.2:c.84-12079G>C	ENSP00000456336.1:n.84-12079G>C
ENST00000563917.2:n.437G>C
ENST00000565471.6:c.136G>C	ENSP00000457384.1:p.Ala46Pro
ENST00000635747.1:c.*498G>C	ENSP00000490627.1:n.*498G>C
ENST00000636212.1:c.*265G>C	ENSP00000489851.1:n.*265G>C
ENST00000636314.1:c.291G>C	ENSP00000490295.1:p.Leu97=
ENST00000636674.1:n.1697G>C
ENST00000636964.1:n.2123G>C
ENST00000637054.1:c.198+8829G>C	ENSP00000490807.1:n.198+8829G>C
ENST00000637223.1:c.*309G>C	ENSP00000490010.1:n.*309G>C
ENST00000637329.1:c.564G>C
ENST00000637450.1:c.*249G>C	ENSP00000490204.1:n.*249G>C
ENST00000637494.1:c.307G>C	ENSP00000490057.1:p.Ala103Pro
ENST00000637667.1:c.496G>C	ENSP00000489843.1:p.Ala166Pro
ENST00000637823.1:c.420G>C
ENST00000637888.1:c.198+8829G>C	ENSP00000490546.1:n.198+8829G>C
ENST00000638076.1:c.*198G>C	ENSP00000490373.1:n.*198G>C
ENST00000638144.1:n.238G>C
ENST00000646164.1:c.38+8829G>C
ENST00000249806.9:c.595G>C	ENSP00000249806.5:p.Ala199Pro
ENST00000538696.5:c.691G>C	ENSP00000445770.1:p.Ala231Pro
ENST00000562767.1:c.84-12079G>C	ENSP00000456336.1:n.84-12079G>C
ENST00000563917.1:n.495G>C
ENST00000564752.1:c.621G>C	ENSP00000457822.1:p.Leu207=
ENST00000565471.5:c.136G>C	ENSP00000457384.1:p.Ala46Pro
ENST00000566347.5:c.406G>C	ENSP00000457783.1:p.Ala136Pro
ENST00000567060.5:c.311G>C	ENSP00000454818.1:p.Cys104Ser
NM_017882.2:c.595G>C	NP_060352.1:p.Ala199Pro
XR_931861.1:n.817G>C
NM_017882.3:c.595G>C MANE Select	NP_060352.1:p.Ala199Pro