Canonical Allele Identifier: CA288228360
Community Standard Title: NM_001113567.3(LRRC75A):c.757A>G (p.Ile253Val)
Gene: LRRC75A HGNC NCBI
SNHG29 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.16443866T>C , CM000679.2:g.16443866T>C GRCh38
NC_000017.10:g.16347180T>C , CM000679.1:g.16347180T>C GRCh37
NC_000017.9:g.16287905T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001113567.3:c.757A>G (LRRC75A) MANE Select NP_001107039.1:p.Ile253Val
ENST00000470794.2:c.757A>G (LRRC75A) MANE Select ENSP00000419502.1:p.Ile253Val
NM_001113567.2:c.757A>G (LRRC75A) NP_001107039.1:p.Ile253Val
NM_207387.3:c.*2A>G (LRRC75A) NP_997270.2:n.*2A>G
NM_207387.4:c.*2A>G (LRRC75A) NP_997270.2:n.*2A>G
NR_027171.1:n.554+2736T>C (SNHG29)
NR_027172.2:n.257+2736T>C (SNHG29)
NR_027173.1:n.288+2736T>C (SNHG29)
NR_027174.1:n.288+2736T>C (SNHG29)
NR_027175.1:n.288+2736T>C (SNHG29)
NR_027176.1:n.231+3613T>C (SNHG29)
NR_027177.1:n.288+2736T>C (SNHG29)
NR_027178.1:n.288+2736T>C (SNHG29)
NR_045023.1:n.231+3613T>C (SNHG29)
NR_045025.1:n.200+2736T>C (SNHG29)
ENST00000409083.7:c.*2A>G (LRRC75A) ENSP00000386504.3:n.*2A>G
ENST00000409887.3:n.868A>G (LRRC75A)
ENST00000470794.1:c.757A>G (LRRC75A) ENSP00000419502.1:p.Ile253Val
XM_011523845.1:c.*309A>G (LRRC75A) XP_011522147.1:n.*309A>G
XM_011523845.3:c.*309A>G (LRRC75A) XP_011522147.1:n.*309A>G
XM_017024619.1:c.712A>G (LRRC75A) XP_016880108.1:p.Ile238Val
XM_017024620.1:c.631A>G (LRRC75A) XP_016880109.1:p.Ile211Val