Canonical Allele Identifier: CA359431799
Community Standard Title: NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
Gene: IL7R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.35874530T>A , CM000667.2:g.35874530T>A GRCh38
NC_000005.9:g.35874632T>A , CM000667.1:g.35874632T>A GRCh37
NC_000005.8:g.35910389T>A NCBI36
NG_009567.1:g.22642T>A , LRG_74:g.22642T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002185.5:c.788T>A MANE Select NP_002176.2:p.Leu263Ter
ENST00000303115.8:c.788T>A MANE Select ENSP00000306157.3:p.Leu263Ter
NM_002185.3:c.788T>A NP_002176.2:p.Leu263Ter
NM_002185.4:c.788T>A NP_002176.2:p.Leu263Ter
NR_120485.1:n.641-982T>A
NR_120485.2:n.667-982T>A
NR_120485.3:n.625-982T>A
ENST00000303115.7:c.788T>A ENSP00000306157.3:p.Leu263Ter
ENST00000505093.1:c.115+882T>A ENSP00000426069.1:n.115+882T>A
ENST00000506850.5:c.706+882T>A ENSP00000421207.1:n.706+882T>A
ENST00000509668.1:n.530T>A
ENST00000514217.5:c.538-982T>A ENSP00000427688.1:n.538-982T>A
XM_005248299.2:c.706+882T>A XP_005248356.1:n.706+882T>A
XM_005248299.4:c.706+882T>A XP_005248356.1:n.706+882T>A
XM_005248300.1:c.706+882T>A XP_005248357.1:n.706+882T>A
XM_011514037.1:c.788T>A XP_011512339.1:p.Leu263Ter