Canonical Allele Identifier: CA493393447

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299706
• MyVariant Identifiers: chr16:g.3778013A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728012A>G , CM000678.2:g.3728012A>G	GRCh38
NC_000016.9:g.3778013A>G , CM000678.1:g.3778013A>G	GRCh37
NC_000016.8:g.3718014A>G	NCBI36
NG_009873.1:g.157109T>C
NG_009873.2:g.157702T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7035T>C MANE Select	ENSP00000262367.5:p.Ser2345=
ENST00000262367.9:c.7035T>C	ENSP00000262367.5:p.Ser2345=
ENST00000382070.7:c.6921T>C	ENSP00000371502.3:p.Ser2307=
NM_001079846.1:c.6921T>C	NP_001073315.1:p.Ser2307=
NM_004380.2:c.7035T>C	NP_004371.2:p.Ser2345=
XM_005255124.3:c.6990T>C	XP_005255181.1:p.Ser2330=
XM_005255125.3:c.6618T>C	XP_005255182.1:p.Ser2206=
XM_006720848.2:c.6774T>C	XP_006720911.1:p.Ser2258=
XM_011522380.1:c.6981T>C	XP_011520682.1:p.Ser2327=
XM_011522381.1:c.6282T>C	XP_011520683.1:p.Ser2094=
XM_005255124.4:c.6990T>C	XP_005255181.1:p.Ser2330=
XM_005255125.4:c.6618T>C	XP_005255182.1:p.Ser2206=
XM_006720848.3:c.6774T>C	XP_006720911.1:p.Ser2258=
XM_011522381.2:c.6282T>C	XP_011520683.1:p.Ser2094=
XM_017022944.1:c.7029T>C	XP_016878433.1:p.Ser2343=
NM_004380.3:c.7035T>C MANE Select	NP_004371.2:p.Ser2345=