Canonical Allele Identifier: CA3232088
Community Standard Title: NM_002185.5(IL7R):c.778G>A (p.Ala260Thr)
Gene: IL7R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35874520G>A , CM000667.2:g.35874520G>A GRCh38
NC_000005.9:g.35874622G>A , CM000667.1:g.35874622G>A GRCh37
NC_000005.8:g.35910379G>A NCBI36
NG_009567.1:g.22632G>A , LRG_74:g.22632G>A

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.778G>A MANE Select NP_002176.2:p.Ala260Thr
ENST00000303115.8:c.778G>A MANE Select ENSP00000306157.3:p.Ala260Thr
NM_002185.3:c.778G>A NP_002176.2:p.Ala260Thr
NM_002185.4:c.778G>A NP_002176.2:p.Ala260Thr
NR_120485.1:n.641-992G>A
NR_120485.2:n.667-992G>A
NR_120485.3:n.625-992G>A
ENST00000303115.7:c.778G>A ENSP00000306157.3:p.Ala260Thr
ENST00000505093.1:c.115+872G>A ENSP00000426069.1:n.115+872G>A
ENST00000506850.5:c.706+872G>A ENSP00000421207.1:n.706+872G>A
ENST00000509668.1:n.520G>A
ENST00000514217.5:c.538-992G>A ENSP00000427688.1:n.538-992G>A
XM_005248299.2:c.706+872G>A XP_005248356.1:n.706+872G>A
XM_005248299.4:c.706+872G>A XP_005248356.1:n.706+872G>A
XM_005248300.1:c.706+872G>A XP_005248357.1:n.706+872G>A
XM_011514037.1:c.778G>A XP_011512339.1:p.Ala260Thr