Canonical Allele Identifier: CA350138751
Community Standard Title: NM_005214.5(CTLA4):c.416A>C (p.Tyr139Ser)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.416A>C MANE Select NP_005205.2:p.Tyr139Ser
ENST00000648405.2:c.416A>C MANE Select ENSP00000497102.1:p.Tyr139Ser
NM_001037631.2:c.416A>C NP_001032720.1:p.Tyr139Ser
NM_001037631.3:c.416A>C NP_001032720.1:p.Tyr139Ser
NM_005214.4:c.416A>C NP_005205.2:p.Tyr139Ser
ENST00000295854.10:c.416A>C ENSP00000295854.6:p.Tyr139Ser
ENST00000302823.7:c.416A>C ENSP00000303939.3:p.Tyr139Ser
ENST00000427473.2:c.305A>C ENSP00000409707.2:p.Tyr102Ser
ENST00000427473.3:n.450A>C
ENST00000472206.1:c.172+244A>C ENSP00000417779.1:n.172+244A>C
ENST00000487393.1:n.110-1816A>C
ENST00000650075.1:n.440A>C
ENST00000696049.1:c.416A>C ENSP00000512353.1:p.Tyr139Ser
ENST00000696479.1:c.488A>C ENSP00000512655.1:p.Tyr163Ser
XR_241294.1:n.556A>C