Canonical Allele Identifier: CA371412235

Gene: LRRCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85112947A>G , CM000670.2:g.85112947A>G	GRCh38
NC_000008.10:g.86025182A>G , CM000670.1:g.86025182A>G	GRCh37
NC_000008.9:g.86212434A>G	NCBI36
NG_053066.1:g.10860A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_033402.5:c.392A>G MANE Select	NP_208325.3:p.His131Arg
ENST00000360375.8:c.392A>G MANE Select	ENSP00000353538.3:p.His131Arg
NM_001349636.1:c.113A>G	NP_001336565.1:p.His38Arg
NM_001349636.2:c.113A>G	NP_001336565.1:p.His38Arg
NM_001349637.1:c.-77A>G	NP_001336566.1:n.-77A>G
NM_001349637.2:c.-77A>G	NP_001336566.1:n.-77A>G
NM_001349638.1:c.-120A>G	NP_001336567.1:n.-120A>G
NM_001349638.2:c.-120A>G	NP_001336567.1:n.-120A>G
NM_001349639.1:c.-166A>G	NP_001336568.1:n.-166A>G
NM_001349639.2:c.-166A>G	NP_001336568.1:n.-166A>G
NM_033402.4:c.392A>G	NP_208325.3:p.His131Arg
ENST00000360375.7:c.392A>G	ENSP00000353538.3:p.His131Arg
ENST00000414626.2:c.332A>G	ENSP00000394695.2:p.His111Arg
ENST00000517875.5:c.*75A>G	ENSP00000430960.1:n.*75A>G
ENST00000522567.5:c.*75A>G	ENSP00000428794.1:n.*75A>G
ENST00000522770.1:c.*397A>G	ENSP00000428506.1:n.*397A>G
ENST00000523669.5:c.*75A>G	ENSP00000430878.1:n.*75A>G
XM_005251317.2:c.392A>G	XP_005251374.1:p.His131Arg
XM_005251318.2:c.113A>G	XP_005251375.1:p.His38Arg
XM_005251319.3:c.-120A>G	XP_005251376.1:n.-120A>G
XM_005251320.2:c.-120A>G	XP_005251377.1:n.-120A>G
XM_005251320.3:c.-120A>G	XP_005251377.1:n.-120A>G
XM_005251322.2:c.-166A>G	XP_005251379.1:n.-166A>G
XM_017013920.1:c.392A>G	XP_016869409.1:p.His131Arg
XM_017013921.1:c.392A>G	XP_016869410.1:p.His131Arg
XM_017013922.1:c.392A>G	XP_016869411.1:p.His131Arg
XM_017013923.1:c.113A>G	XP_016869412.1:p.His38Arg
XM_017013925.1:c.-534A>G	XP_016869414.1:n.-534A>G
XM_017013926.1:c.-534A>G	XP_016869415.1:n.-534A>G
XM_017013927.1:c.-576A>G	XP_016869416.1:n.-576A>G
XM_017013928.1:c.-166A>G	XP_016869417.1:n.-166A>G
XR_002956650.1:n.506A>G