Canonical Allele Identifier: CA392973560

Gene: CLN6

Linked Data

• ClinVar Variation Id: 2106892
• ClinVar RCV Id: RCV003017288
• MyVariant Identifiers: chr15:g.68504133C>G (hg19) ; chr15:g.68211795C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68211795C>G , CM000677.2:g.68211795C>G	GRCh38
NC_000015.9:g.68504133C>G , CM000677.1:g.68504133C>G	GRCh37
NC_000015.8:g.66291187C>G	NCBI36
NG_008764.2:g.50417G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.366G>C MANE Select	ENSP00000249806.5:p.Met122Ile
ENST00000562767.2:c.84-14167G>C	ENSP00000456336.1:n.84-14167G>C
ENST00000563917.2:n.208G>C
ENST00000565471.6:c.84-2036G>C	ENSP00000457384.1:n.84-2036G>C
ENST00000635747.1:c.*269G>C	ENSP00000490627.1:n.*269G>C
ENST00000636212.1:c.298-54G>C	ENSP00000489851.1:n.298-54G>C
ENST00000636314.1:c.183-477G>C	ENSP00000490295.1:n.183-477G>C
ENST00000636674.1:n.1349G>C
ENST00000636964.1:n.1538G>C
ENST00000637054.1:c.198+6741G>C	ENSP00000490807.1:n.198+6741G>C
ENST00000637223.1:c.*201-477G>C	ENSP00000490010.1:n.*201-477G>C
ENST00000637329.1:c.335G>C
ENST00000637450.1:c.*20G>C	ENSP00000490204.1:n.*20G>C
ENST00000637494.1:c.199-477G>C	ENSP00000490057.1:n.199-477G>C
ENST00000637667.1:c.267G>C	ENSP00000489843.1:p.Met89Ile
ENST00000637823.1:c.224-152G>C
ENST00000637888.1:c.198+6741G>C	ENSP00000490546.1:n.198+6741G>C
ENST00000638076.1:c.366G>C	ENSP00000490373.1:p.Met122Ile
ENST00000638144.1:n.130-477G>C
ENST00000646164.1:c.38+6741G>C
ENST00000249806.9:c.366G>C	ENSP00000249806.5:p.Met122Ile
ENST00000538696.5:c.462G>C	ENSP00000445770.1:p.Met154Ile
ENST00000562767.1:c.84-14167G>C	ENSP00000456336.1:n.84-14167G>C
ENST00000563917.1:n.147G>C
ENST00000564752.1:c.366G>C	ENSP00000457822.1:p.Met122Ile
ENST00000565471.5:c.84-2036G>C	ENSP00000457384.1:n.84-2036G>C
ENST00000566347.5:c.298-477G>C	ENSP00000457783.1:n.298-477G>C
ENST00000567060.5:c.298-2075G>C	ENSP00000454818.1:n.298-2075G>C
NM_017882.2:c.366G>C	NP_060352.1:p.Met122Ile
XR_931861.1:n.469G>C
NM_017882.3:c.366G>C MANE Select	NP_060352.1:p.Met122Ile