Canonical Allele Identifier: CA7630481

Gene: CLN6

Linked Data

• ClinVar Variation Id: 1110469
• ClinVar RCV Id: RCV001436688
• dbSNP Id: rs540227628
• ExAC: 15:68500682 G / A
• gnomAD v2: 15-68500682-G-A
• gnomAD v3: 15-68208344-G-A
• gnomAD v4: 15-68208344-G-A
• MyVariant Identifiers: chr15:g.68500682G>A (hg19) ; chr15:g.68208344G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.68208344G>A , CM000677.2:g.68208344G>A	GRCh38
NC_000015.9:g.68500682G>A , CM000677.1:g.68500682G>A	GRCh37
NC_000015.8:g.66287736G>A	NCBI36
NG_008764.2:g.53868C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000249806.11:c.732C>T MANE Select	ENSP00000249806.5:p.Leu244=
ENST00000562767.2:c.84-10716C>T	ENSP00000456336.1:n.84-10716C>T
ENST00000565471.6:c.273C>T	ENSP00000457384.1:p.Leu91=
ENST00000635747.1:c.*635C>T	ENSP00000490627.1:n.*635C>T
ENST00000636212.1:c.*402C>T	ENSP00000489851.1:n.*402C>T
ENST00000636674.1:n.1834C>T
ENST00000636964.1:n.2260C>T
ENST00000637054.1:c.198+10192C>T	ENSP00000490807.1:n.198+10192C>T
ENST00000637329.1:c.701C>T
ENST00000637450.1:c.*386C>T	ENSP00000490204.1:n.*386C>T
ENST00000637494.1:c.444C>T	ENSP00000490057.1:p.Leu148=
ENST00000637667.1:c.633C>T	ENSP00000489843.1:p.Leu211=
ENST00000637823.1:c.557C>T
ENST00000637888.1:c.198+10192C>T	ENSP00000490546.1:n.198+10192C>T
ENST00000638076.1:c.*335C>T	ENSP00000490373.1:n.*335C>T
ENST00000638144.1:n.375C>T
ENST00000646164.1:c.39-8663C>T
ENST00000249806.9:c.732C>T	ENSP00000249806.5:p.Leu244=
ENST00000538696.5:c.828C>T	ENSP00000445770.1:p.Leu276=
ENST00000562767.1:c.84-10716C>T	ENSP00000456336.1:n.84-10716C>T
ENST00000564752.1:c.*116C>T	ENSP00000457822.1:n.*116C>T
ENST00000565471.5:c.273C>T	ENSP00000457384.1:p.Leu91=
ENST00000566347.5:c.543C>T	ENSP00000457783.1:p.Leu181=
ENST00000567060.5:c.*130C>T	ENSP00000454818.1:n.*130C>T
NM_017882.2:c.732C>T	NP_060352.1:p.Leu244=
NM_017882.3:c.732C>T MANE Select	NP_060352.1:p.Leu244=