Canonical Allele Identifier: CA394564027

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151330111
• MyVariant Identifiers: chr16:g.3786803G>A (hg19) ; chr16:g.3736802G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736802G>A , CM000678.2:g.3736802G>A	GRCh38
NC_000016.9:g.3786803G>A , CM000678.1:g.3786803G>A	GRCh37
NC_000016.8:g.3726804G>A	NCBI36
NG_009873.1:g.148319C>T
NG_009873.2:g.148912C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4408C>T MANE Select	ENSP00000262367.5:p.His1470Tyr
ENST00000262367.9:c.4408C>T	ENSP00000262367.5:p.His1470Tyr
ENST00000382070.7:c.4294C>T	ENSP00000371502.3:p.His1432Tyr
ENST00000570939.2:c.3043C>T	ENSP00000461002.2:p.His1015Tyr
ENST00000571763.5:n.198C>T
ENST00000574740.1:n.229C>T
ENST00000576720.1:n.3231C>T
NM_001079846.1:c.4294C>T	NP_001073315.1:p.His1432Tyr
NM_004380.2:c.4408C>T	NP_004371.2:p.His1470Tyr
XM_005255124.3:c.4363C>T	XP_005255181.1:p.His1455Tyr
XM_005255125.3:c.3991C>T	XP_005255182.1:p.His1331Tyr
XM_006720848.2:c.4147C>T	XP_006720911.1:p.His1383Tyr
XM_011522380.1:c.4354C>T	XP_011520682.1:p.His1452Tyr
XM_011522381.1:c.3655C>T	XP_011520683.1:p.His1219Tyr
XM_005255124.4:c.4363C>T	XP_005255181.1:p.His1455Tyr
XM_005255125.4:c.3991C>T	XP_005255182.1:p.His1331Tyr
XM_006720848.3:c.4147C>T	XP_006720911.1:p.His1383Tyr
XM_011522381.2:c.3655C>T	XP_011520683.1:p.His1219Tyr
XM_017022944.1:c.4402C>T	XP_016878433.1:p.His1468Tyr
NM_004380.3:c.4408C>T MANE Select	NP_004371.2:p.His1470Tyr