Canonical Allele Identifier: CA394551287

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820794G>A (hg19) ; chr16:g.3770793G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770793G>A , CM000678.2:g.3770793G>A	GRCh38
NC_000016.9:g.3820794G>A , CM000678.1:g.3820794G>A	GRCh37
NC_000016.8:g.3760795G>A	NCBI36
NG_009873.1:g.114328C>T
NG_009873.2:g.114921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2657C>T MANE Select	ENSP00000262367.5:p.Thr886Ile
ENST00000262367.9:c.2657C>T	ENSP00000262367.5:p.Thr886Ile
ENST00000382070.7:c.2543C>T	ENSP00000371502.3:p.Thr848Ile
ENST00000570939.2:c.1262C>T	ENSP00000461002.2:p.Thr421Ile
NM_001079846.1:c.2543C>T	NP_001073315.1:p.Thr848Ile
NM_004380.2:c.2657C>T	NP_004371.2:p.Thr886Ile
XM_005255124.3:c.2612C>T	XP_005255181.1:p.Thr871Ile
XM_005255125.3:c.2464-1440C>T	XP_005255182.1:n.2464-1440C>T
XM_006720848.2:c.2657C>T	XP_006720911.1:p.Thr886Ile
XM_011522380.1:c.2603C>T	XP_011520682.1:p.Thr868Ile
XM_011522381.1:c.1904C>T	XP_011520683.1:p.Thr635Ile
XM_011522382.1:c.2657C>T	XP_011520684.1:p.Thr886Ile
XM_005255124.4:c.2612C>T	XP_005255181.1:p.Thr871Ile
XM_005255125.4:c.2464-1440C>T	XP_005255182.1:n.2464-1440C>T
XM_006720848.3:c.2657C>T	XP_006720911.1:p.Thr886Ile
XM_011522381.2:c.1904C>T	XP_011520683.1:p.Thr635Ile
XM_011522382.3:c.2657C>T	XP_011520684.1:p.Thr886Ile
XM_017022944.1:c.2651C>T	XP_016878433.1:p.Thr884Ile
NM_004380.3:c.2657C>T MANE Select	NP_004371.2:p.Thr886Ile