Canonical Allele Identifier: CA5780139

Gene: LRRC56

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.554214G>C , CM000673.2:g.554214G>C	GRCh38
NC_000011.9:g.554214G>C , CM000673.1:g.554214G>C	GRCh37
NC_000011.8:g.544214G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_198075.4:c.1567G>C MANE Select	NP_932341.1:p.Asp523His
ENST00000270115.8:c.1567G>C MANE Select	ENSP00000270115.7:p.Asp523His
NM_198075.3:c.1567G>C	NP_932341.1:p.Asp523His
ENST00000270115.7:c.1567G>C	ENSP00000270115.7:p.Asp523His
XM_005252775.2:c.1567G>C	XP_005252832.1:p.Asp523His
XM_005252776.2:c.1390G>C	XP_005252833.1:p.Asp464His
XM_006718132.2:c.1567G>C	XP_006718195.1:p.Asp523His
XM_006718133.2:c.1567G>C	XP_006718196.1:p.Asp523His
XM_006718135.2:c.*69G>C	XP_006718198.1:n.*69G>C
XM_011519875.1:c.1567G>C	XP_011518177.1:p.Asp523His
XM_011519875.2:c.1567G>C	XP_011518177.1:p.Asp523His
XM_011519876.1:c.1567G>C	XP_011518178.1:p.Asp523His
XM_011519877.1:c.1567G>C	XP_011518179.1:p.Asp523His
XM_011519877.2:c.1567G>C	XP_011518179.1:p.Asp523His
XM_017017167.1:c.1567G>C	XP_016872656.1:p.Asp523His
XM_017017168.1:c.1567G>C	XP_016872657.1:p.Asp523His