Canonical Allele Identifier: CA394553943

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151305655
• MyVariant Identifiers: chr16:g.3778864T>G (hg19) ; chr16:g.3728863T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728863T>G , CM000678.2:g.3728863T>G	GRCh38
NC_000016.9:g.3778864T>G , CM000678.1:g.3778864T>G	GRCh37
NC_000016.8:g.3718865T>G	NCBI36
NG_009873.1:g.156258A>C
NG_009873.2:g.156851A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6184A>C MANE Select	ENSP00000262367.5:p.Ile2062Leu
ENST00000262367.9:c.6184A>C	ENSP00000262367.5:p.Ile2062Leu
ENST00000382070.7:c.6070A>C	ENSP00000371502.3:p.Ile2024Leu
NM_001079846.1:c.6070A>C	NP_001073315.1:p.Ile2024Leu
NM_004380.2:c.6184A>C	NP_004371.2:p.Ile2062Leu
XM_005255124.3:c.6139A>C	XP_005255181.1:p.Ile2047Leu
XM_005255125.3:c.5767A>C	XP_005255182.1:p.Ile1923Leu
XM_006720848.2:c.5923A>C	XP_006720911.1:p.Ile1975Leu
XM_011522380.1:c.6130A>C	XP_011520682.1:p.Ile2044Leu
XM_011522381.1:c.5431A>C	XP_011520683.1:p.Ile1811Leu
XM_005255124.4:c.6139A>C	XP_005255181.1:p.Ile2047Leu
XM_005255125.4:c.5767A>C	XP_005255182.1:p.Ile1923Leu
XM_006720848.3:c.5923A>C	XP_006720911.1:p.Ile1975Leu
XM_011522381.2:c.5431A>C	XP_011520683.1:p.Ile1811Leu
XM_017022944.1:c.6178A>C	XP_016878433.1:p.Ile2060Leu
NM_004380.3:c.6184A>C MANE Select	NP_004371.2:p.Ile2062Leu