Canonical Allele Identifier: CA10588965

Gene: LRRCC1

Linked Data

• ClinVar Variation Id: 266077
• ClinVar RCV Id: RCV000256435 ; RCV003989515
• dbSNP Id: rs886039794
• MyVariant Identifiers: chr8:g.86021829G>C (hg19) ; chr8:g.85109594G>C (hg38)
• PubMed: PMID:27894351

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.85109594G>C , CM000670.2:g.85109594G>C	GRCh38
NC_000008.10:g.86021829G>C , CM000670.1:g.86021829G>C	GRCh37
NC_000008.9:g.86209081G>C	NCBI36
NG_053066.1:g.7507G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360375.8:c.105-1G>C MANE Select	ENSP00000353538.3:n.105-1G>C
ENST00000360375.7:c.105-1G>C	ENSP00000353538.3:n.105-1G>C
ENST00000414626.2:c.44G>C	ENSP00000394695.2:p.Ser15Thr
ENST00000517875.5:c.105-521G>C	ENSP00000430960.1:n.105-521G>C
ENST00000522567.5:c.105-521G>C	ENSP00000428794.1:n.105-521G>C
ENST00000522770.1:c.*316-521G>C	ENSP00000428506.1:n.*316-521G>C
ENST00000523669.5:c.105-521G>C	ENSP00000430878.1:n.105-521G>C
NM_033402.4:c.105-1G>C	NP_208325.3:n.105-1G>C
XM_005251317.2:c.105-1G>C	XP_005251374.1:n.105-1G>C
XM_005251318.2:c.32-521G>C	XP_005251375.1:n.32-521G>C
XM_005251319.3:c.-407-1G>C	XP_005251376.1:n.-407-1G>C
XM_005251320.2:c.-201-521G>C	XP_005251377.1:n.-201-521G>C
XM_005251322.2:c.-247-521G>C	XP_005251379.1:n.-247-521G>C
NM_001349636.1:c.32-521G>C	NP_001336565.1:n.32-521G>C
NM_001349637.1:c.-158-521G>C	NP_001336566.1:n.-158-521G>C
NM_001349638.1:c.-407-1G>C	NP_001336567.1:n.-407-1G>C
NM_001349639.1:c.-247-521G>C	NP_001336568.1:n.-247-521G>C
XM_005251320.3:c.-201-521G>C	XP_005251377.1:n.-201-521G>C
XM_017013920.1:c.105-1G>C	XP_016869409.1:n.105-1G>C
XM_017013921.1:c.105-1G>C	XP_016869410.1:n.105-1G>C
XM_017013922.1:c.105-1G>C	XP_016869411.1:n.105-1G>C
XM_017013923.1:c.32-521G>C	XP_016869412.1:n.32-521G>C
XM_017013926.1:c.-615-521G>C	XP_016869415.1:n.-615-521G>C
XM_017013927.1:c.-657-521G>C	XP_016869416.1:n.-657-521G>C
XR_002956650.1:n.219-1G>C
NM_033402.5:c.105-1G>C MANE Select	NP_208325.3:n.105-1G>C
NM_001349636.2:c.32-521G>C	NP_001336565.1:n.32-521G>C
NM_001349637.2:c.-158-521G>C	NP_001336566.1:n.-158-521G>C
NM_001349638.2:c.-407-1G>C	NP_001336567.1:n.-407-1G>C
NM_001349639.2:c.-247-521G>C	NP_001336568.1:n.-247-521G>C