Canonical Allele Identifier: CA394563743

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786738T>G (hg19) ; chr16:g.3736737T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736737T>G , CM000678.2:g.3736737T>G	GRCh38
NC_000016.9:g.3786738T>G , CM000678.1:g.3786738T>G	GRCh37
NC_000016.8:g.3726739T>G	NCBI36
NG_009873.1:g.148384A>C
NG_009873.2:g.148977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4473A>C MANE Select	ENSP00000262367.5:p.Gln1491His
ENST00000262367.9:c.4473A>C	ENSP00000262367.5:p.Gln1491His
ENST00000382070.7:c.4359A>C	ENSP00000371502.3:p.Gln1453His
ENST00000570939.2:c.3108A>C	ENSP00000461002.2:p.Gln1036His
ENST00000571763.5:n.263A>C
ENST00000574740.1:n.294A>C
ENST00000576720.1:n.3296A>C
NM_001079846.1:c.4359A>C	NP_001073315.1:p.Gln1453His
NM_004380.2:c.4473A>C	NP_004371.2:p.Gln1491His
XM_005255124.3:c.4428A>C	XP_005255181.1:p.Gln1476His
XM_005255125.3:c.4056A>C	XP_005255182.1:p.Gln1352His
XM_006720848.2:c.4212A>C	XP_006720911.1:p.Gln1404His
XM_011522380.1:c.4419A>C	XP_011520682.1:p.Gln1473His
XM_011522381.1:c.3720A>C	XP_011520683.1:p.Gln1240His
XM_005255124.4:c.4428A>C	XP_005255181.1:p.Gln1476His
XM_005255125.4:c.4056A>C	XP_005255182.1:p.Gln1352His
XM_006720848.3:c.4212A>C	XP_006720911.1:p.Gln1404His
XM_011522381.2:c.3720A>C	XP_011520683.1:p.Gln1240His
XM_017022944.1:c.4467A>C	XP_016878433.1:p.Gln1489His
NM_004380.3:c.4473A>C MANE Select	NP_004371.2:p.Gln1491His