Canonical Allele Identifier: CA350138185
Community Standard Title: NM_005214.5(CTLA4):c.160G>C (p.Ala54Pro)
Gene: CTLA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.203870636G>C , CM000664.2:g.203870636G>C GRCh38
NC_000002.11:g.204735359G>C , CM000664.1:g.204735359G>C GRCh37
NC_000002.10:g.204443604G>C NCBI36
NG_011502.1:g.7851G>C

Transcript Alleles

HGVS Amino-acid Change
NM_005214.5:c.160G>C MANE Select NP_005205.2:p.Ala54Pro
ENST00000648405.2:c.160G>C MANE Select ENSP00000497102.1:p.Ala54Pro
NM_001037631.2:c.160G>C NP_001032720.1:p.Ala54Pro
NM_001037631.3:c.160G>C NP_001032720.1:p.Ala54Pro
NM_005214.4:c.160G>C NP_005205.2:p.Ala54Pro
ENST00000295854.10:c.160G>C ENSP00000295854.6:p.Ala54Pro
ENST00000302823.7:c.160G>C ENSP00000303939.3:p.Ala54Pro
ENST00000427473.2:c.49G>C ENSP00000409707.2:p.Ala17Pro
ENST00000427473.3:n.194G>C
ENST00000472206.1:c.160G>C ENSP00000417779.1:p.Ala54Pro
ENST00000487393.1:n.110-2072G>C
ENST00000650075.1:n.184G>C
ENST00000696049.1:c.160G>C ENSP00000512353.1:p.Ala54Pro
ENST00000696479.1:c.232G>C ENSP00000512655.1:p.Ala78Pro
XR_241294.1:n.300G>C