Canonical Allele Identifier: CA401032937

Gene: LLGL2

Linked Data

• gnomAD v4: 17-75568833-T-C
• MyVariant Identifiers: chr17:g.73564914T>C (hg19) ; chr17:g.75568833T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75568833T>C , CM000679.2:g.75568833T>C	GRCh38
NC_000017.10:g.73564914T>C , CM000679.1:g.73564914T>C	GRCh37
NC_000017.9:g.71076509T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392550.8:c.1316T>C MANE Select	ENSP00000376333.4:p.Leu439Pro
ENST00000167462.9:c.1316T>C	ENSP00000167462.5:p.Leu439Pro
ENST00000392550.7:c.1316T>C	ENSP00000376333.3:p.Leu439Pro
ENST00000545227.6:n.1493T>C
ENST00000577200.5:c.1316T>C	ENSP00000464397.1:p.Leu439Pro
ENST00000577500.5:n.836T>C
ENST00000578638.5:c.307T>C
ENST00000578719.1:c.16T>C
NM_001031803.1:c.1316T>C	NP_001026973.1:p.Leu439Pro
NM_004524.2:c.1316T>C	NP_004515.2:p.Leu439Pro
XM_006721897.2:c.1316T>C	XP_006721960.1:p.Leu439Pro
XM_011524801.1:c.1316T>C	XP_011523103.1:p.Leu439Pro
XM_011524802.1:c.1316T>C	XP_011523104.1:p.Leu439Pro
XM_011524803.1:c.1316T>C	XP_011523105.1:p.Leu439Pro
XM_011524804.1:c.1316T>C	XP_011523106.1:p.Leu439Pro
XM_011524805.1:c.1316T>C	XP_011523107.1:p.Leu439Pro
XM_011524806.1:c.1316T>C	XP_011523108.1:p.Leu439Pro
XM_011524807.1:c.1118T>C	XP_011523109.1:p.Leu373Pro
XM_017024625.1:c.1316T>C	XP_016880114.1:p.Leu439Pro
XM_017024626.1:c.1316T>C	XP_016880115.1:p.Leu439Pro
XM_017024627.1:c.1316T>C	XP_016880116.1:p.Leu439Pro
XM_017024628.1:c.1316T>C	XP_016880117.1:p.Leu439Pro
XM_017024629.1:c.1316T>C	XP_016880118.1:p.Leu439Pro
XM_017024630.1:c.1316T>C	XP_016880119.1:p.Leu439Pro
XM_017024631.1:c.1316T>C	XP_016880120.1:p.Leu439Pro
XR_001752508.1:n.1441T>C
XR_002957999.1:n.1441T>C
XR_002958000.1:n.1508T>C
XR_002958001.1:n.1551T>C
XR_002958002.1:n.1480T>C
XR_002958003.1:n.1441T>C
XR_002958004.1:n.1559T>C
XR_002958005.1:n.1577T>C
NM_001031803.2:c.1316T>C MANE Select	NP_001026973.1:p.Leu439Pro
NM_004524.3:c.1316T>C	NP_004515.2:p.Leu439Pro