Canonical Allele Identifier: CA392972111

Gene: CLN6

Linked Data

• ClinVar Variation Id: 939784
• ClinVar RCV Id: RCV001209232
• dbSNP Id: rs2093194059
• gnomAD v4: 15-68208346-G-C
• MyVariant Identifiers: chr15:g.68500684G>C (hg19) ; chr15:g.68208346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208346G>C , CM000677.2:g.68208346G>C	GRCh38
NC_000015.9:g.68500684G>C , CM000677.1:g.68500684G>C	GRCh37
NC_000015.8:g.66287738G>C	NCBI36
NG_008764.2:g.53866C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.730C>G MANE Select	ENSP00000249806.5:p.Leu244Val
ENST00000562767.2:c.84-10718C>G	ENSP00000456336.1:n.84-10718C>G
ENST00000565471.6:c.271C>G	ENSP00000457384.1:p.Leu91Val
ENST00000635747.1:c.*633C>G	ENSP00000490627.1:n.*633C>G
ENST00000636212.1:c.*400C>G	ENSP00000489851.1:n.*400C>G
ENST00000636674.1:n.1832C>G
ENST00000636964.1:n.2258C>G
ENST00000637054.1:c.198+10190C>G	ENSP00000490807.1:n.198+10190C>G
ENST00000637329.1:c.699C>G
ENST00000637450.1:c.*384C>G	ENSP00000490204.1:n.*384C>G
ENST00000637494.1:c.442C>G	ENSP00000490057.1:p.Leu148Val
ENST00000637667.1:c.631C>G	ENSP00000489843.1:p.Leu211Val
ENST00000637823.1:c.555C>G
ENST00000637888.1:c.198+10190C>G	ENSP00000490546.1:n.198+10190C>G
ENST00000638076.1:c.*333C>G	ENSP00000490373.1:n.*333C>G
ENST00000638144.1:n.373C>G
ENST00000646164.1:c.39-8665C>G
ENST00000249806.9:c.730C>G	ENSP00000249806.5:p.Leu244Val
ENST00000538696.5:c.826C>G	ENSP00000445770.1:p.Leu276Val
ENST00000562767.1:c.84-10718C>G	ENSP00000456336.1:n.84-10718C>G
ENST00000564752.1:c.*114C>G	ENSP00000457822.1:n.*114C>G
ENST00000565471.5:c.271C>G	ENSP00000457384.1:p.Leu91Val
ENST00000566347.5:c.541C>G	ENSP00000457783.1:p.Leu181Val
ENST00000567060.5:c.*128C>G	ENSP00000454818.1:n.*128C>G
NM_017882.2:c.730C>G	NP_060352.1:p.Leu244Val
NM_017882.3:c.730C>G MANE Select	NP_060352.1:p.Leu244Val