Canonical Allele Identifier: CA394556512

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151311021
• MyVariant Identifiers: chr16:g.3779637T>G (hg19) ; chr16:g.3729636T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3729636T>G , CM000678.2:g.3729636T>G	GRCh38
NC_000016.9:g.3779637T>G , CM000678.1:g.3779637T>G	GRCh37
NC_000016.8:g.3719638T>G	NCBI36
NG_009873.1:g.155485A>C
NG_009873.2:g.156078A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.5411A>C MANE Select	ENSP00000262367.5:p.His1804Pro
ENST00000262367.9:c.5411A>C	ENSP00000262367.5:p.His1804Pro
ENST00000382070.7:c.5297A>C	ENSP00000371502.3:p.His1766Pro
NM_001079846.1:c.5297A>C	NP_001073315.1:p.His1766Pro
NM_004380.2:c.5411A>C	NP_004371.2:p.His1804Pro
XM_005255124.3:c.5366A>C	XP_005255181.1:p.His1789Pro
XM_005255125.3:c.4994A>C	XP_005255182.1:p.His1665Pro
XM_006720848.2:c.5150A>C	XP_006720911.1:p.His1717Pro
XM_011522380.1:c.5357A>C	XP_011520682.1:p.His1786Pro
XM_011522381.1:c.4658A>C	XP_011520683.1:p.His1553Pro
XM_005255124.4:c.5366A>C	XP_005255181.1:p.His1789Pro
XM_005255125.4:c.4994A>C	XP_005255182.1:p.His1665Pro
XM_006720848.3:c.5150A>C	XP_006720911.1:p.His1717Pro
XM_011522381.2:c.4658A>C	XP_011520683.1:p.His1553Pro
XM_017022944.1:c.5405A>C	XP_016878433.1:p.His1802Pro
NM_004380.3:c.5411A>C MANE Select	NP_004371.2:p.His1804Pro