Canonical Allele Identifier: CA493393368
Gene: CREBBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.3777971T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.3727970T>A , CM000678.2:g.3727970T>A GRCh38
NC_000016.9:g.3777971T>A , CM000678.1:g.3777971T>A GRCh37
NC_000016.8:g.3717972T>A NCBI36
NG_009873.1:g.157151A>T
NG_009873.2:g.157744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000262367.10:c.7077A>T MANE Select ENSP00000262367.5:p.Pro2359=
ENST00000262367.9:c.7077A>T ENSP00000262367.5:p.Pro2359=
ENST00000382070.7:c.6963A>T ENSP00000371502.3:p.Pro2321=
NM_001079846.1:c.6963A>T NP_001073315.1:p.Pro2321=
NM_004380.2:c.7077A>T NP_004371.2:p.Pro2359=
XM_005255124.3:c.7032A>T XP_005255181.1:p.Pro2344=
XM_005255125.3:c.6660A>T XP_005255182.1:p.Pro2220=
XM_006720848.2:c.6816A>T XP_006720911.1:p.Pro2272=
XM_011522380.1:c.7023A>T XP_011520682.1:p.Pro2341=
XM_011522381.1:c.6324A>T XP_011520683.1:p.Pro2108=
XM_005255124.4:c.7032A>T XP_005255181.1:p.Pro2344=
XM_005255125.4:c.6660A>T XP_005255182.1:p.Pro2220=
XM_006720848.3:c.6816A>T XP_006720911.1:p.Pro2272=
XM_011522381.2:c.6324A>T XP_011520683.1:p.Pro2108=
XM_017022944.1:c.7071A>T XP_016878433.1:p.Pro2357=
NM_004380.3:c.7077A>T MANE Select NP_004371.2:p.Pro2359=