Canonical Allele Identifier: CA2697592

Gene: LRRC34

Linked Data

• dbSNP Id: rs10936600
• ExAC: 3:169514585 A / T
• gnomAD v2: 3-169514585-A-T
• gnomAD v3: 3-169796797-A-T
• gnomAD v4: 3-169796797-A-T
• MyVariant Identifiers: chr3:g.169514585A>T (hg19) ; chr3:g.169796797A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169796797A>T , CM000665.2:g.169796797A>T	GRCh38
NC_000003.11:g.169514585A>T , CM000665.1:g.169514585A>T	GRCh37
NC_000003.10:g.170997279A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000446859.7:c.856T>A MANE Select	ENSP00000414635.1:p.Leu286Ile
ENST00000446859.5:c.856T>A	ENSP00000414635.1:p.Leu286Ile
ENST00000522080.5:n.833T>A
ENST00000522329.1:n.105T>A
ENST00000522526.6:c.760T>A	ENSP00000429278.2:p.Leu254Ile
ENST00000522596.6:n.838T>A
ENST00000522830.5:c.673T>A	ENSP00000429593.1:p.Leu225Ile
ENST00000524054.5:n.704T>A
ENST00000524327.5:n.656T>A
ENST00000528597.1:c.103T>A	ENSP00000436883.1:p.Leu35Ile
ENST00000602774.1:n.242T>A
NM_001172779.1:c.856T>A	NP_001166250.1:p.Leu286Ile
NM_001172780.1:c.856T>A	NP_001166251.1:p.Leu286Ile
NM_153353.4:c.760T>A	NP_699184.2:p.Leu254Ile
XM_005247133.2:c.673T>A	XP_005247190.1:p.Leu225Ile
XM_006713508.2:c.802T>A	XP_006713571.1:p.Leu268Ile
XM_011512442.1:c.853T>A	XP_011510744.1:p.Leu285Ile
NM_001363888.1:c.673T>A	NP_001350817.1:p.Leu225Ile
XM_006713508.4:c.802T>A	XP_006713571.1:p.Leu268Ile
XM_011512442.2:c.853T>A	XP_011510744.1:p.Leu285Ile
XM_017005746.1:c.670T>A	XP_016861235.1:p.Leu224Ile
NM_001172779.2:c.856T>A MANE Select	NP_001166250.1:p.Leu286Ile
NM_001172780.2:c.856T>A	NP_001166251.1:p.Leu286Ile
NM_001363888.2:c.673T>A	NP_001350817.1:p.Leu225Ile
NM_001370608.1:c.670T>A	NP_001357537.1:p.Leu224Ile
NM_001370609.1:c.673T>A	NP_001357538.1:p.Leu225Ile
NM_153353.5:c.760T>A	NP_699184.2:p.Leu254Ile