Canonical Allele Identifier: CA392972296

Gene: CLN6

Linked Data

• dbSNP Id: rs1280578239
• gnomAD v4: 15-68208386-G-C
• MyVariant Identifiers: chr15:g.68500724G>C (hg19) ; chr15:g.68208386G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208386G>C , CM000677.2:g.68208386G>C	GRCh38
NC_000015.9:g.68500724G>C , CM000677.1:g.68500724G>C	GRCh37
NC_000015.8:g.66287778G>C	NCBI36
NG_008764.2:g.53826C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249806.11:c.690C>G MANE Select	ENSP00000249806.5:p.Ile230Met
ENST00000562767.2:c.84-10758C>G	ENSP00000456336.1:n.84-10758C>G
ENST00000563917.2:n.532C>G
ENST00000565471.6:c.231C>G	ENSP00000457384.1:p.Ile77Met
ENST00000635747.1:c.*593C>G	ENSP00000490627.1:n.*593C>G
ENST00000636212.1:c.*360C>G	ENSP00000489851.1:n.*360C>G
ENST00000636674.1:n.1792C>G
ENST00000636964.1:n.2218C>G
ENST00000637054.1:c.198+10150C>G	ENSP00000490807.1:n.198+10150C>G
ENST00000637329.1:c.659C>G
ENST00000637450.1:c.*344C>G	ENSP00000490204.1:n.*344C>G
ENST00000637494.1:c.402C>G	ENSP00000490057.1:p.Ile134Met
ENST00000637667.1:c.591C>G	ENSP00000489843.1:p.Ile197Met
ENST00000637823.1:c.515C>G
ENST00000637888.1:c.198+10150C>G	ENSP00000490546.1:n.198+10150C>G
ENST00000638076.1:c.*293C>G	ENSP00000490373.1:n.*293C>G
ENST00000638144.1:n.333C>G
ENST00000646164.1:c.39-8705C>G
ENST00000249806.9:c.690C>G	ENSP00000249806.5:p.Ile230Met
ENST00000538696.5:c.786C>G	ENSP00000445770.1:p.Ile262Met
ENST00000562767.1:c.84-10758C>G	ENSP00000456336.1:n.84-10758C>G
ENST00000564752.1:c.*74C>G	ENSP00000457822.1:n.*74C>G
ENST00000565471.5:c.231C>G	ENSP00000457384.1:p.Ile77Met
ENST00000566347.5:c.501C>G	ENSP00000457783.1:p.Ile167Met
ENST00000567060.5:c.*88C>G	ENSP00000454818.1:n.*88C>G
NM_017882.2:c.690C>G	NP_060352.1:p.Ile230Met
NM_017882.3:c.690C>G MANE Select	NP_060352.1:p.Ile230Met