Canonical Allele Identifier: CA493393674

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305217
• MyVariant Identifiers: chr16:g.3778805C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728804C>T , CM000678.2:g.3728804C>T	GRCh38
NC_000016.9:g.3778805C>T , CM000678.1:g.3778805C>T	GRCh37
NC_000016.8:g.3718806C>T	NCBI36
NG_009873.1:g.156317G>A
NG_009873.2:g.156910G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6243G>A MANE Select	ENSP00000262367.5:p.Gln2081=
ENST00000262367.9:c.6243G>A	ENSP00000262367.5:p.Gln2081=
ENST00000382070.7:c.6129G>A	ENSP00000371502.3:p.Gln2043=
NM_001079846.1:c.6129G>A	NP_001073315.1:p.Gln2043=
NM_004380.2:c.6243G>A	NP_004371.2:p.Gln2081=
XM_005255124.3:c.6198G>A	XP_005255181.1:p.Gln2066=
XM_005255125.3:c.5826G>A	XP_005255182.1:p.Gln1942=
XM_006720848.2:c.5982G>A	XP_006720911.1:p.Gln1994=
XM_011522380.1:c.6189G>A	XP_011520682.1:p.Gln2063=
XM_011522381.1:c.5490G>A	XP_011520683.1:p.Gln1830=
XM_005255124.4:c.6198G>A	XP_005255181.1:p.Gln2066=
XM_005255125.4:c.5826G>A	XP_005255182.1:p.Gln1942=
XM_006720848.3:c.5982G>A	XP_006720911.1:p.Gln1994=
XM_011522381.2:c.5490G>A	XP_011520683.1:p.Gln1830=
XM_017022944.1:c.6237G>A	XP_016878433.1:p.Gln2079=
NM_004380.3:c.6243G>A MANE Select	NP_004371.2:p.Gln2081=