Canonical Allele Identifier: CA1322148613
Community Standard Title: NM_005214.5(CTLA4):c.75G= (p.Leu25=)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203868017G= , CM000664.2:g.203868017G= GRCh38
NC_000002.11:g.204732740G= , CM000664.1:g.204732740G= GRCh37
NC_000002.10:g.204440985G= NCBI36
NG_011502.1:g.5232G=

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.75G= MANE Select NP_005205.2:p.Leu25=
ENST00000648405.2:c.75G= MANE Select ENSP00000497102.1:p.Leu25=
NM_001037631.2:c.75G= NP_001032720.1:p.Leu25=
NM_001037631.3:c.75G= NP_001032720.1:p.Leu25=
NM_005214.4:c.75G= NP_005205.2:p.Leu25=
ENST00000295854.10:c.75G= ENSP00000295854.6:p.Leu25=
ENST00000302823.7:c.75G= ENSP00000303939.3:p.Leu25=
ENST00000472206.1:c.75G= ENSP00000417779.1:p.Leu25=
ENST00000487393.1:n.75G=
ENST00000696049.1:c.75G= ENSP00000512353.1:p.Leu25=
ENST00000696479.1:c.147G= ENSP00000512655.1:p.Leu49=
XR_241294.1:n.215G=