Canonical Allele Identifier: CA350138752
Community Standard Title: NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870892A>G , CM000664.2:g.203870892A>G GRCh38
NC_000002.11:g.204735615A>G , CM000664.1:g.204735615A>G GRCh37
NC_000002.10:g.204443860A>G NCBI36
NG_011502.1:g.8107A>G

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.416A>G MANE Select NP_005205.2:p.Tyr139Cys
ENST00000648405.2:c.416A>G MANE Select ENSP00000497102.1:p.Tyr139Cys
NM_001037631.2:c.416A>G NP_001032720.1:p.Tyr139Cys
NM_001037631.3:c.416A>G NP_001032720.1:p.Tyr139Cys
NM_005214.4:c.416A>G NP_005205.2:p.Tyr139Cys
ENST00000295854.10:c.416A>G ENSP00000295854.6:p.Tyr139Cys
ENST00000302823.7:c.416A>G ENSP00000303939.3:p.Tyr139Cys
ENST00000427473.2:c.305A>G ENSP00000409707.2:p.Tyr102Cys
ENST00000427473.3:n.450A>G
ENST00000472206.1:c.172+244A>G ENSP00000417779.1:n.172+244A>G
ENST00000487393.1:n.110-1816A>G
ENST00000650075.1:n.440A>G
ENST00000696049.1:c.416A>G ENSP00000512353.1:p.Tyr139Cys
ENST00000696479.1:c.488A>G ENSP00000512655.1:p.Tyr163Cys
XR_241294.1:n.556A>G