Canonical Allele Identifier: CA160117
Community Standard Title: NM_002185.5(IL7R):c.1231A>G (p.Thr411Ala)
Gene: IL7R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35876337A>G , CM000667.2:g.35876337A>G GRCh38
NC_000005.9:g.35876439A>G , CM000667.1:g.35876439A>G GRCh37
NC_000005.8:g.35912196A>G NCBI36
NG_009567.1:g.24449A>G , LRG_74:g.24449A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.1231A>G MANE Select NP_002176.2:p.Thr411Ala
ENST00000303115.8:c.1231A>G MANE Select ENSP00000306157.3:p.Thr411Ala
NM_002185.3:c.1231A>G NP_002176.2:p.Thr411Ala
NM_002185.4:c.1231A>G NP_002176.2:p.Thr411Ala
NR_120485.1:n.1071A>G
NR_120485.2:n.1097A>G
NR_120485.3:n.1055A>G
ENST00000303115.7:c.1231A>G ENSP00000306157.3:p.Thr411Ala
ENST00000505093.1:c.546A>G ENSP00000426069.1:n.546A>G
ENST00000505875.1:n.529A>G
ENST00000514217.5:c.*425A>G ENSP00000427688.1:n.*425A>G
XM_005248299.4:c.*348A>G XP_005248356.1:n.*348A>G