Canonical Allele Identifier: CA493394568
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3807984C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3757983C>G , CM000678.2:g.3757983C>G GRCh38
NC_000016.9:g.3807984C>G , CM000678.1:g.3807984C>G GRCh37
NC_000016.8:g.3747985C>G NCBI36
NG_009873.1:g.127138G>C
NG_009873.2:g.127731G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.3435G>C MANE Select ENSP00000262367.5:p.Gly1145=
ENST00000262367.9:c.3435G>C ENSP00000262367.5:p.Gly1145=
ENST00000382070.7:c.3321G>C ENSP00000371502.3:p.Gly1107=
ENST00000570939.2:c.2040G>C ENSP00000461002.2:p.Gly680=
NM_001079846.1:c.3321G>C NP_001073315.1:p.Gly1107=
NM_004380.2:c.3435G>C NP_004371.2:p.Gly1145=
XM_005255124.3:c.3390G>C XP_005255181.1:p.Gly1130=
XM_005255125.3:c.3018G>C XP_005255182.1:p.Gly1006=
XM_006720848.2:c.3435G>C XP_006720911.1:p.Gly1145=
XM_011522380.1:c.3381G>C XP_011520682.1:p.Gly1127=
XM_011522381.1:c.2682G>C XP_011520683.1:p.Gly894=
XM_011522382.1:c.3435G>C XP_011520684.1:p.Gly1145=
XM_005255124.4:c.3390G>C XP_005255181.1:p.Gly1130=
XM_005255125.4:c.3018G>C XP_005255182.1:p.Gly1006=
XM_006720848.3:c.3435G>C XP_006720911.1:p.Gly1145=
XM_011522381.2:c.2682G>C XP_011520683.1:p.Gly894=
XM_011522382.3:c.3435G>C XP_011520684.1:p.Gly1145=
XM_017022944.1:c.3429G>C XP_016878433.1:p.Gly1143=
NM_004380.3:c.3435G>C MANE Select NP_004371.2:p.Gly1145=