Canonical Allele Identifier: CA394550768

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299762
• MyVariant Identifiers: chr16:g.3778021C>G (hg19) ; chr16:g.3728020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728020C>G , CM000678.2:g.3728020C>G	GRCh38
NC_000016.9:g.3778021C>G , CM000678.1:g.3778021C>G	GRCh37
NC_000016.8:g.3718022C>G	NCBI36
NG_009873.1:g.157101G>C
NG_009873.2:g.157694G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7027G>C MANE Select	ENSP00000262367.5:p.Val2343Leu
ENST00000262367.9:c.7027G>C	ENSP00000262367.5:p.Val2343Leu
ENST00000382070.7:c.6913G>C	ENSP00000371502.3:p.Val2305Leu
NM_001079846.1:c.6913G>C	NP_001073315.1:p.Val2305Leu
NM_004380.2:c.7027G>C	NP_004371.2:p.Val2343Leu
XM_005255124.3:c.6982G>C	XP_005255181.1:p.Val2328Leu
XM_005255125.3:c.6610G>C	XP_005255182.1:p.Val2204Leu
XM_006720848.2:c.6766G>C	XP_006720911.1:p.Val2256Leu
XM_011522380.1:c.6973G>C	XP_011520682.1:p.Val2325Leu
XM_011522381.1:c.6274G>C	XP_011520683.1:p.Val2092Leu
XM_005255124.4:c.6982G>C	XP_005255181.1:p.Val2328Leu
XM_005255125.4:c.6610G>C	XP_005255182.1:p.Val2204Leu
XM_006720848.3:c.6766G>C	XP_006720911.1:p.Val2256Leu
XM_011522381.2:c.6274G>C	XP_011520683.1:p.Val2092Leu
XM_017022944.1:c.7021G>C	XP_016878433.1:p.Val2341Leu
NM_004380.3:c.7027G>C MANE Select	NP_004371.2:p.Val2343Leu