Canonical Allele Identifier: CA394564686

Gene: CREBBP

Linked Data

• dbSNP Id: rs1366252123
• gnomAD v2: 16-3789583-T-A
• gnomAD v4: 16-3739582-T-A
• MyVariant Identifiers: chr16:g.3789583T>A (hg19) ; chr16:g.3739582T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739582T>A , CM000678.2:g.3739582T>A	GRCh38
NC_000016.9:g.3789583T>A , CM000678.1:g.3789583T>A	GRCh37
NC_000016.8:g.3729584T>A	NCBI36
NG_009873.1:g.145539A>T
NG_009873.2:g.146132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4276A>T MANE Select	ENSP00000262367.5:p.Thr1426Ser
ENST00000262367.9:c.4276A>T	ENSP00000262367.5:p.Thr1426Ser
ENST00000382070.7:c.4162A>T	ENSP00000371502.3:p.Thr1388Ser
ENST00000570939.2:c.2911A>T	ENSP00000461002.2:p.Thr971Ser
ENST00000573517.6:c.582A>T
ENST00000574740.1:n.215+817A>T
ENST00000576720.1:n.3213A>T
NM_001079846.1:c.4162A>T	NP_001073315.1:p.Thr1388Ser
NM_004380.2:c.4276A>T	NP_004371.2:p.Thr1426Ser
XM_005255124.3:c.4231A>T	XP_005255181.1:p.Thr1411Ser
XM_005255125.3:c.3859A>T	XP_005255182.1:p.Thr1287Ser
XM_006720848.2:c.4133+817A>T	XP_006720911.1:n.4133+817A>T
XM_011522380.1:c.4222A>T	XP_011520682.1:p.Thr1408Ser
XM_011522381.1:c.3523A>T	XP_011520683.1:p.Thr1175Ser
XM_005255124.4:c.4231A>T	XP_005255181.1:p.Thr1411Ser
XM_005255125.4:c.3859A>T	XP_005255182.1:p.Thr1287Ser
XM_006720848.3:c.4133+817A>T	XP_006720911.1:n.4133+817A>T
XM_011522381.2:c.3523A>T	XP_011520683.1:p.Thr1175Ser
XM_017022944.1:c.4270A>T	XP_016878433.1:p.Thr1424Ser
NM_004380.3:c.4276A>T MANE Select	NP_004371.2:p.Thr1426Ser