Canonical Allele Identifier: CA392973387

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1690751
• ClinVar RCV Id: RCV002253169
• dbSNP Id: rs154774638
• gnomAD v4: 15-68211715-C-G
• MyVariant Identifiers: chr15:g.68504053C>G (hg19) ; chr15:g.68211715C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211715C>G , CM000677.2:g.68211715C>G	GRCh38
NC_000015.9:g.68504053C>G , CM000677.1:g.68504053C>G	GRCh37
NC_000015.8:g.66291107C>G	NCBI36
NG_008764.2:g.50497G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.446G>C MANE Select	ENSP00000249806.5:p.Arg149Pro
ENST00000562767.2:c.84-14087G>C	ENSP00000456336.1:n.84-14087G>C
ENST00000563917.2:n.288G>C
ENST00000565471.6:c.84-1956G>C	ENSP00000457384.1:n.84-1956G>C
ENST00000635747.1:c.*349G>C	ENSP00000490627.1:n.*349G>C
ENST00000636212.1:c.324G>C	ENSP00000489851.1:p.Pro108=
ENST00000636314.1:c.183-397G>C	ENSP00000490295.1:n.183-397G>C
ENST00000636674.1:n.1429G>C
ENST00000636964.1:n.1618G>C
ENST00000637054.1:c.198+6821G>C	ENSP00000490807.1:n.198+6821G>C
ENST00000637223.1:c.*201-397G>C	ENSP00000490010.1:n.*201-397G>C
ENST00000637329.1:c.415G>C
ENST00000637450.1:c.*100G>C	ENSP00000490204.1:n.*100G>C
ENST00000637494.1:c.199-397G>C	ENSP00000490057.1:n.199-397G>C
ENST00000637667.1:c.347G>C	ENSP00000489843.1:p.Arg116Pro
ENST00000637823.1:c.224-72G>C
ENST00000637888.1:c.198+6821G>C	ENSP00000490546.1:n.198+6821G>C
ENST00000638076.1:c.446G>C	ENSP00000490373.1:p.Arg149Pro
ENST00000638144.1:n.130-397G>C
ENST00000646164.1:c.38+6821G>C
ENST00000249806.9:c.446G>C	ENSP00000249806.5:p.Arg149Pro
ENST00000538696.5:c.542G>C	ENSP00000445770.1:p.Arg181Pro
ENST00000562767.1:c.84-14087G>C	ENSP00000456336.1:n.84-14087G>C
ENST00000563917.1:n.227G>C
ENST00000564752.1:c.446G>C	ENSP00000457822.1:p.Arg149Pro
ENST00000565471.5:c.84-1956G>C	ENSP00000457384.1:n.84-1956G>C
ENST00000566347.5:c.298-397G>C	ENSP00000457783.1:n.298-397G>C
ENST00000567060.5:c.298-1995G>C	ENSP00000454818.1:n.298-1995G>C
NM_017882.2:c.446G>C	NP_060352.1:p.Arg149Pro
XR_931861.1:n.549G>C
NM_017882.3:c.446G>C MANE Select	NP_060352.1:p.Arg149Pro