Canonical Allele Identifier: CA394550922

Gene: CREBBP

Linked Data

• dbSNP Id: rs2051794701
• MyVariant Identifiers: chr16:g.3778059A>G (hg19) ; chr16:g.3728058A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728058A>G , CM000678.2:g.3728058A>G	GRCh38
NC_000016.9:g.3778059A>G , CM000678.1:g.3778059A>G	GRCh37
NC_000016.8:g.3718060A>G	NCBI36
NG_009873.1:g.157063T>C
NG_009873.2:g.157656T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6989T>C MANE Select	ENSP00000262367.5:p.Leu2330Pro
ENST00000262367.9:c.6989T>C	ENSP00000262367.5:p.Leu2330Pro
ENST00000382070.7:c.6875T>C	ENSP00000371502.3:p.Leu2292Pro
NM_001079846.1:c.6875T>C	NP_001073315.1:p.Leu2292Pro
NM_004380.2:c.6989T>C	NP_004371.2:p.Leu2330Pro
XM_005255124.3:c.6944T>C	XP_005255181.1:p.Leu2315Pro
XM_005255125.3:c.6572T>C	XP_005255182.1:p.Leu2191Pro
XM_006720848.2:c.6728T>C	XP_006720911.1:p.Leu2243Pro
XM_011522380.1:c.6935T>C	XP_011520682.1:p.Leu2312Pro
XM_011522381.1:c.6236T>C	XP_011520683.1:p.Leu2079Pro
XM_005255124.4:c.6944T>C	XP_005255181.1:p.Leu2315Pro
XM_005255125.4:c.6572T>C	XP_005255182.1:p.Leu2191Pro
XM_006720848.3:c.6728T>C	XP_006720911.1:p.Leu2243Pro
XM_011522381.2:c.6236T>C	XP_011520683.1:p.Leu2079Pro
XM_017022944.1:c.6983T>C	XP_016878433.1:p.Leu2328Pro
NM_004380.3:c.6989T>C MANE Select	NP_004371.2:p.Leu2330Pro