Canonical Allele Identifier: CA350138669
Community Standard Title: NM_005214.5(CTLA4):c.381C>A (p.Tyr127Ter)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870857C>A , CM000664.2:g.203870857C>A GRCh38
NC_000002.11:g.204735580C>A , CM000664.1:g.204735580C>A GRCh37
NC_000002.10:g.204443825C>A NCBI36
NG_011502.1:g.8072C>A

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.381C>A MANE Select NP_005205.2:p.Tyr127Ter
ENST00000648405.2:c.381C>A MANE Select ENSP00000497102.1:p.Tyr127Ter
NM_001037631.2:c.381C>A NP_001032720.1:p.Tyr127Ter
NM_001037631.3:c.381C>A NP_001032720.1:p.Tyr127Ter
NM_005214.4:c.381C>A NP_005205.2:p.Tyr127Ter
ENST00000295854.10:c.381C>A ENSP00000295854.6:p.Tyr127Ter
ENST00000302823.7:c.381C>A ENSP00000303939.3:p.Tyr127Ter
ENST00000427473.2:c.270C>A ENSP00000409707.2:p.Tyr90Ter
ENST00000427473.3:n.415C>A
ENST00000472206.1:c.172+209C>A ENSP00000417779.1:n.172+209C>A
ENST00000487393.1:n.110-1851C>A
ENST00000650075.1:n.405C>A
ENST00000696049.1:c.381C>A ENSP00000512353.1:p.Tyr127Ter
ENST00000696479.1:c.453C>A ENSP00000512655.1:p.Tyr151Ter
XR_241294.1:n.521C>A