Canonical Allele Identifier: CA394563894

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786761A>G (hg19) ; chr16:g.3736760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736760A>G , CM000678.2:g.3736760A>G	GRCh38
NC_000016.9:g.3786761A>G , CM000678.1:g.3786761A>G	GRCh37
NC_000016.8:g.3726762A>G	NCBI36
NG_009873.1:g.148361T>C
NG_009873.2:g.148954T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4450T>C MANE Select	ENSP00000262367.5:p.Phe1484Leu
ENST00000262367.9:c.4450T>C	ENSP00000262367.5:p.Phe1484Leu
ENST00000382070.7:c.4336T>C	ENSP00000371502.3:p.Phe1446Leu
ENST00000570939.2:c.3085T>C	ENSP00000461002.2:p.Phe1029Leu
ENST00000571763.5:n.240T>C
ENST00000574740.1:n.271T>C
ENST00000576720.1:n.3273T>C
NM_001079846.1:c.4336T>C	NP_001073315.1:p.Phe1446Leu
NM_004380.2:c.4450T>C	NP_004371.2:p.Phe1484Leu
XM_005255124.3:c.4405T>C	XP_005255181.1:p.Phe1469Leu
XM_005255125.3:c.4033T>C	XP_005255182.1:p.Phe1345Leu
XM_006720848.2:c.4189T>C	XP_006720911.1:p.Phe1397Leu
XM_011522380.1:c.4396T>C	XP_011520682.1:p.Phe1466Leu
XM_011522381.1:c.3697T>C	XP_011520683.1:p.Phe1233Leu
XM_005255124.4:c.4405T>C	XP_005255181.1:p.Phe1469Leu
XM_005255125.4:c.4033T>C	XP_005255182.1:p.Phe1345Leu
XM_006720848.3:c.4189T>C	XP_006720911.1:p.Phe1397Leu
XM_011522381.2:c.3697T>C	XP_011520683.1:p.Phe1233Leu
XM_017022944.1:c.4444T>C	XP_016878433.1:p.Phe1482Leu
NM_004380.3:c.4450T>C MANE Select	NP_004371.2:p.Phe1484Leu