Canonical Allele Identifier: CA340758878

Gene: LRRC7 LRRC7-AS1

Linked Data

• ClinVar Variation Id: 431107
• ClinVar RCV Id: RCV000496100
• dbSNP Id: rs1135401780
• MyVariant Identifiers: chr1:g.70505137T>G (hg19) ; chr1:g.70039454T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.70039454T>G , CM000663.2:g.70039454T>G	GRCh38
NC_000001.10:g.70505137T>G , CM000663.1:g.70505137T>G	GRCh37
NC_000001.9:g.70277725T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000651217.1:n.3546T>G (LRRC7)
ENST00000651989.2:c.3630T>G (LRRC7) MANE Select	ENSP00000498937.2:p.Tyr1210Ter
ENST00000035383.9:c.3516T>G (LRRC7)	ENSP00000035383.5:p.Tyr1172Ter
ENST00000310961.9:c.3531T>G (LRRC7)	ENSP00000309245.4:p.Tyr1177Ter
ENST00000415775.2:c.1368T>G (LRRC7)	ENSP00000394867.2:p.Tyr456Ter
NM_020794.2:c.3516T>G (LRRC7)	NP_065845.1:p.Tyr1172Ter
XM_011541836.1:c.3633T>G (LRRC7)	XP_011540138.1:p.Tyr1211Ter
XR_947492.1:n.1030-490A>C
NM_001330635.1:c.3531T>G (LRRC7)	NP_001317564.1:p.Tyr1177Ter
NM_001350216.1:c.3633T>G (LRRC7)	NP_001337145.1:p.Tyr1211Ter
NM_001366838.1:c.3630T>G (LRRC7)	NP_001353767.1:p.Tyr1210Ter
NM_001366839.1:c.3471T>G (LRRC7)	NP_001353768.1:p.Tyr1157Ter
NM_001366841.1:c.3531T>G (LRRC7)	NP_001353770.1:p.Tyr1177Ter
XM_017001885.1:c.3687T>G (LRRC7)	XP_016857374.1:p.Tyr1229Ter
XM_017001886.1:c.3687T>G (LRRC7)	XP_016857375.1:p.Tyr1229Ter
XM_017001887.1:c.3687T>G (LRRC7)	XP_016857376.1:p.Tyr1229Ter
XM_017001888.1:c.3687T>G (LRRC7)	XP_016857377.1:p.Tyr1229Ter
XM_017001889.1:c.3687T>G (LRRC7)	XP_016857378.1:p.Tyr1229Ter
XM_017001892.1:c.3687T>G (LRRC7)	XP_016857381.1:p.Tyr1229Ter
XM_017001895.1:c.3683+4T>G (LRRC7)	XP_016857384.1:n.3683+4T>G
XR_001738107.1:n.165-490A>C (LRRC7-AS1)
NM_001330635.3:c.3531T>G (LRRC7)	NP_001317564.1:p.Tyr1177Ter
NM_001350216.2:c.3633T>G (LRRC7)	NP_001337145.1:p.Tyr1211Ter
NM_001366838.3:c.3630T>G (LRRC7)	NP_001353767.1:p.Tyr1210Ter
NM_001366839.3:c.3471T>G (LRRC7)	NP_001353768.1:p.Tyr1157Ter
NM_001370785.2:c.3630T>G (LRRC7) MANE Select	NP_001357714.1:p.Tyr1210Ter
NM_001350216.3:c.3633T>G (LRRC7)	NP_001337145.1:p.Tyr1211Ter