Canonical Allele Identifier: CA394553716

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304934
• MyVariant Identifiers: chr16:g.3778759T>G (hg19) ; chr16:g.3728758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728758T>G , CM000678.2:g.3728758T>G	GRCh38
NC_000016.9:g.3778759T>G , CM000678.1:g.3778759T>G	GRCh37
NC_000016.8:g.3718760T>G	NCBI36
NG_009873.1:g.156363A>C
NG_009873.2:g.156956A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6289A>C MANE Select	ENSP00000262367.5:p.Met2097Leu
ENST00000262367.9:c.6289A>C	ENSP00000262367.5:p.Met2097Leu
ENST00000382070.7:c.6175A>C	ENSP00000371502.3:p.Met2059Leu
NM_001079846.1:c.6175A>C	NP_001073315.1:p.Met2059Leu
NM_004380.2:c.6289A>C	NP_004371.2:p.Met2097Leu
XM_005255124.3:c.6244A>C	XP_005255181.1:p.Met2082Leu
XM_005255125.3:c.5872A>C	XP_005255182.1:p.Met1958Leu
XM_006720848.2:c.6028A>C	XP_006720911.1:p.Met2010Leu
XM_011522380.1:c.6235A>C	XP_011520682.1:p.Met2079Leu
XM_011522381.1:c.5536A>C	XP_011520683.1:p.Met1846Leu
XM_005255124.4:c.6244A>C	XP_005255181.1:p.Met2082Leu
XM_005255125.4:c.5872A>C	XP_005255182.1:p.Met1958Leu
XM_006720848.3:c.6028A>C	XP_006720911.1:p.Met2010Leu
XM_011522381.2:c.5536A>C	XP_011520683.1:p.Met1846Leu
XM_017022944.1:c.6283A>C	XP_016878433.1:p.Met2095Leu
NM_004380.3:c.6289A>C MANE Select	NP_004371.2:p.Met2097Leu