Canonical Allele Identifier: CA355077185

Gene: LRRC34

Linked Data

• dbSNP Id: rs6793295
• gnomAD v4: 3-169800667-T-A
• MyVariant Identifiers: chr3:g.169518455T>A (hg19) ; chr3:g.169800667T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.169800667T>A , CM000665.2:g.169800667T>A	GRCh38
NC_000003.11:g.169518455T>A , CM000665.1:g.169518455T>A	GRCh37
NC_000003.10:g.171001149T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000446859.7:c.745A>T MANE Select	ENSP00000414635.1:p.Ser249Cys
ENST00000446859.5:c.745A>T	ENSP00000414635.1:p.Ser249Cys
ENST00000522080.5:n.722A>T
ENST00000522526.6:c.657+3386A>T	ENSP00000429278.2:n.657+3386A>T
ENST00000522596.6:n.727A>T
ENST00000522830.5:c.562A>T	ENSP00000429593.1:p.Ser188Cys
ENST00000524054.5:n.593A>T
ENST00000524327.5:n.545A>T
NM_001172779.1:c.745A>T	NP_001166250.1:p.Ser249Cys
NM_001172780.1:c.745A>T	NP_001166251.1:p.Ser249Cys
NM_153353.4:c.657+3386A>T	NP_699184.2:n.657+3386A>T
XM_005247133.2:c.562A>T	XP_005247190.1:p.Ser188Cys
XM_006713508.2:c.691A>T	XP_006713571.1:p.Ser231Cys
XM_011512442.1:c.742A>T	XP_011510744.1:p.Ser248Cys
NM_001363888.1:c.562A>T	NP_001350817.1:p.Ser188Cys
XM_006713508.4:c.691A>T	XP_006713571.1:p.Ser231Cys
XM_011512442.2:c.742A>T	XP_011510744.1:p.Ser248Cys
XM_017005746.1:c.559A>T	XP_016861235.1:p.Ser187Cys
NM_001172779.2:c.745A>T MANE Select	NP_001166250.1:p.Ser249Cys
NM_001172780.2:c.745A>T	NP_001166251.1:p.Ser249Cys
NM_001363888.2:c.562A>T	NP_001350817.1:p.Ser188Cys
NM_001370608.1:c.559A>T	NP_001357537.1:p.Ser187Cys
NM_001370609.1:c.562A>T	NP_001357538.1:p.Ser188Cys
NM_153353.5:c.657+3386A>T	NP_699184.2:n.657+3386A>T