Canonical Allele Identifier: CA394563776

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786742T>G (hg19) ; chr16:g.3736741T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736741T>G , CM000678.2:g.3736741T>G	GRCh38
NC_000016.9:g.3786742T>G , CM000678.1:g.3786742T>G	GRCh37
NC_000016.8:g.3726743T>G	NCBI36
NG_009873.1:g.148380A>C
NG_009873.2:g.148973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4469A>C MANE Select	ENSP00000262367.5:p.Asp1490Ala
ENST00000262367.9:c.4469A>C	ENSP00000262367.5:p.Asp1490Ala
ENST00000382070.7:c.4355A>C	ENSP00000371502.3:p.Asp1452Ala
ENST00000570939.2:c.3104A>C	ENSP00000461002.2:p.Asp1035Ala
ENST00000571763.5:n.259A>C
ENST00000574740.1:n.290A>C
ENST00000576720.1:n.3292A>C
NM_001079846.1:c.4355A>C	NP_001073315.1:p.Asp1452Ala
NM_004380.2:c.4469A>C	NP_004371.2:p.Asp1490Ala
XM_005255124.3:c.4424A>C	XP_005255181.1:p.Asp1475Ala
XM_005255125.3:c.4052A>C	XP_005255182.1:p.Asp1351Ala
XM_006720848.2:c.4208A>C	XP_006720911.1:p.Asp1403Ala
XM_011522380.1:c.4415A>C	XP_011520682.1:p.Asp1472Ala
XM_011522381.1:c.3716A>C	XP_011520683.1:p.Asp1239Ala
XM_005255124.4:c.4424A>C	XP_005255181.1:p.Asp1475Ala
XM_005255125.4:c.4052A>C	XP_005255182.1:p.Asp1351Ala
XM_006720848.3:c.4208A>C	XP_006720911.1:p.Asp1403Ala
XM_011522381.2:c.3716A>C	XP_011520683.1:p.Asp1239Ala
XM_017022944.1:c.4463A>C	XP_016878433.1:p.Asp1488Ala
NM_004380.3:c.4469A>C MANE Select	NP_004371.2:p.Asp1490Ala