Canonical Allele Identifier: CA7630529

Gene: CLN6

Linked Data

• dbSNP Id: rs770515770
• ExAC: 15:68502052 G / C
• gnomAD v2: 15-68502052-G-C
• gnomAD v4: 15-68209714-G-C
• MyVariant Identifiers: chr15:g.68502052G>C (hg19) ; chr15:g.68209714G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68209714G>C , CM000677.2:g.68209714G>C	GRCh38
NC_000015.9:g.68502052G>C , CM000677.1:g.68502052G>C	GRCh37
NC_000015.8:g.66289106G>C	NCBI36
NG_008764.2:g.52498C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.588C>G MANE Select	ENSP00000249806.5:p.Cys196Trp
ENST00000562767.2:c.84-12086C>G	ENSP00000456336.1:n.84-12086C>G
ENST00000563917.2:n.430C>G
ENST00000565471.6:c.129C>G	ENSP00000457384.1:p.Cys43Trp
ENST00000635747.1:c.*491C>G	ENSP00000490627.1:n.*491C>G
ENST00000636212.1:c.*258C>G	ENSP00000489851.1:n.*258C>G
ENST00000636314.1:c.284C>G	ENSP00000490295.1:p.Ala95Gly
ENST00000636674.1:n.1690C>G
ENST00000636964.1:n.2116C>G
ENST00000637054.1:c.198+8822C>G	ENSP00000490807.1:n.198+8822C>G
ENST00000637223.1:c.*302C>G	ENSP00000490010.1:n.*302C>G
ENST00000637329.1:c.557C>G
ENST00000637450.1:c.*242C>G	ENSP00000490204.1:n.*242C>G
ENST00000637494.1:c.300C>G	ENSP00000490057.1:p.Cys100Trp
ENST00000637667.1:c.489C>G	ENSP00000489843.1:p.Cys163Trp
ENST00000637823.1:c.413C>G
ENST00000637888.1:c.198+8822C>G	ENSP00000490546.1:n.198+8822C>G
ENST00000638076.1:c.*191C>G	ENSP00000490373.1:n.*191C>G
ENST00000638144.1:n.231C>G
ENST00000646164.1:c.38+8822C>G
ENST00000249806.9:c.588C>G	ENSP00000249806.5:p.Cys196Trp
ENST00000538696.5:c.684C>G	ENSP00000445770.1:p.Cys228Trp
ENST00000562767.1:c.84-12086C>G	ENSP00000456336.1:n.84-12086C>G
ENST00000563917.1:n.488C>G
ENST00000564752.1:c.614C>G	ENSP00000457822.1:p.Ala205Gly
ENST00000565471.5:c.129C>G	ENSP00000457384.1:p.Cys43Trp
ENST00000566347.5:c.399C>G	ENSP00000457783.1:p.Cys133Trp
ENST00000567060.5:c.304C>G	ENSP00000454818.1:p.Leu102Val
NM_017882.2:c.588C>G	NP_060352.1:p.Cys196Trp
XR_931861.1:n.810C>G
NM_017882.3:c.588C>G MANE Select	NP_060352.1:p.Cys196Trp