Canonical Allele Identifier: CA394557021

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311286
• MyVariant Identifiers: chr16:g.3779671G>T (hg19) ; chr16:g.3729670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729670G>T , CM000678.2:g.3729670G>T	GRCh38
NC_000016.9:g.3779671G>T , CM000678.1:g.3779671G>T	GRCh37
NC_000016.8:g.3719672G>T	NCBI36
NG_009873.1:g.155451C>A
NG_009873.2:g.156044C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5377C>A MANE Select	ENSP00000262367.5:p.Pro1793Thr
ENST00000262367.9:c.5377C>A	ENSP00000262367.5:p.Pro1793Thr
ENST00000382070.7:c.5263C>A	ENSP00000371502.3:p.Pro1755Thr
NM_001079846.1:c.5263C>A	NP_001073315.1:p.Pro1755Thr
NM_004380.2:c.5377C>A	NP_004371.2:p.Pro1793Thr
XM_005255124.3:c.5332C>A	XP_005255181.1:p.Pro1778Thr
XM_005255125.3:c.4960C>A	XP_005255182.1:p.Pro1654Thr
XM_006720848.2:c.5116C>A	XP_006720911.1:p.Pro1706Thr
XM_011522380.1:c.5323C>A	XP_011520682.1:p.Pro1775Thr
XM_011522381.1:c.4624C>A	XP_011520683.1:p.Pro1542Thr
XM_005255124.4:c.5332C>A	XP_005255181.1:p.Pro1778Thr
XM_005255125.4:c.4960C>A	XP_005255182.1:p.Pro1654Thr
XM_006720848.3:c.5116C>A	XP_006720911.1:p.Pro1706Thr
XM_011522381.2:c.4624C>A	XP_011520683.1:p.Pro1542Thr
XM_017022944.1:c.5371C>A	XP_016878433.1:p.Pro1791Thr
NM_004380.3:c.5377C>A MANE Select	NP_004371.2:p.Pro1793Thr