Canonical Allele Identifier: CA394568759

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3807907G>T (hg19) ; chr16:g.3757906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757906G>T , CM000678.2:g.3757906G>T	GRCh38
NC_000016.9:g.3807907G>T , CM000678.1:g.3807907G>T	GRCh37
NC_000016.8:g.3747908G>T	NCBI36
NG_009873.1:g.127215C>A
NG_009873.2:g.127808C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.3512C>A MANE Select	ENSP00000262367.5:p.Thr1171Lys
ENST00000262367.9:c.3512C>A	ENSP00000262367.5:p.Thr1171Lys
ENST00000382070.7:c.3398C>A	ENSP00000371502.3:p.Thr1133Lys
ENST00000570939.2:c.2117C>A	ENSP00000461002.2:p.Thr706Lys
NM_001079846.1:c.3398C>A	NP_001073315.1:p.Thr1133Lys
NM_004380.2:c.3512C>A	NP_004371.2:p.Thr1171Lys
XM_005255124.3:c.3467C>A	XP_005255181.1:p.Thr1156Lys
XM_005255125.3:c.3095C>A	XP_005255182.1:p.Thr1032Lys
XM_006720848.2:c.3512C>A	XP_006720911.1:p.Thr1171Lys
XM_011522380.1:c.3458C>A	XP_011520682.1:p.Thr1153Lys
XM_011522381.1:c.2759C>A	XP_011520683.1:p.Thr920Lys
XM_011522382.1:c.3512C>A	XP_011520684.1:p.Thr1171Lys
XM_005255124.4:c.3467C>A	XP_005255181.1:p.Thr1156Lys
XM_005255125.4:c.3095C>A	XP_005255182.1:p.Thr1032Lys
XM_006720848.3:c.3512C>A	XP_006720911.1:p.Thr1171Lys
XM_011522381.2:c.2759C>A	XP_011520683.1:p.Thr920Lys
XM_011522382.3:c.3512C>A	XP_011520684.1:p.Thr1171Lys
XM_017022944.1:c.3506C>A	XP_016878433.1:p.Thr1169Lys
NM_004380.3:c.3512C>A MANE Select	NP_004371.2:p.Thr1171Lys