Canonical Allele Identifier: CA394550797

Gene: CREBBP

Linked Data

• dbSNP Id: rs2052980526
• gnomAD v4: 16-3770670-G-A
• MyVariant Identifiers: chr16:g.3820671G>A (hg19) ; chr16:g.3770670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770670G>A , CM000678.2:g.3770670G>A	GRCh38
NC_000016.9:g.3820671G>A , CM000678.1:g.3820671G>A	GRCh37
NC_000016.8:g.3760672G>A	NCBI36
NG_009873.1:g.114451C>T
NG_009873.2:g.115044C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.2780C>T MANE Select	ENSP00000262367.5:p.Thr927Ile
ENST00000262367.9:c.2780C>T	ENSP00000262367.5:p.Thr927Ile
ENST00000382070.7:c.2666C>T	ENSP00000371502.3:p.Thr889Ile
ENST00000570939.2:c.1385C>T	ENSP00000461002.2:p.Thr462Ile
ENST00000573672.1:n.34C>T
NM_001079846.1:c.2666C>T	NP_001073315.1:p.Thr889Ile
NM_004380.2:c.2780C>T	NP_004371.2:p.Thr927Ile
XM_005255124.3:c.2735C>T	XP_005255181.1:p.Thr912Ile
XM_005255125.3:c.2464-1317C>T	XP_005255182.1:n.2464-1317C>T
XM_006720848.2:c.2780C>T	XP_006720911.1:p.Thr927Ile
XM_011522380.1:c.2726C>T	XP_011520682.1:p.Thr909Ile
XM_011522381.1:c.2027C>T	XP_011520683.1:p.Thr676Ile
XM_011522382.1:c.2780C>T	XP_011520684.1:p.Thr927Ile
XM_005255124.4:c.2735C>T	XP_005255181.1:p.Thr912Ile
XM_005255125.4:c.2464-1317C>T	XP_005255182.1:n.2464-1317C>T
XM_006720848.3:c.2780C>T	XP_006720911.1:p.Thr927Ile
XM_011522381.2:c.2027C>T	XP_011520683.1:p.Thr676Ile
XM_011522382.3:c.2780C>T	XP_011520684.1:p.Thr927Ile
XM_017022944.1:c.2774C>T	XP_016878433.1:p.Thr925Ile
NM_004380.3:c.2780C>T MANE Select	NP_004371.2:p.Thr927Ile