Canonical Allele Identifier: CA394554217

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306156
• MyVariant Identifiers: chr16:g.3778945A>T (hg19) ; chr16:g.3728944A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728944A>T , CM000678.2:g.3728944A>T	GRCh38
NC_000016.9:g.3778945A>T , CM000678.1:g.3778945A>T	GRCh37
NC_000016.8:g.3718946A>T	NCBI36
NG_009873.1:g.156177T>A
NG_009873.2:g.156770T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6103T>A MANE Select	ENSP00000262367.5:p.Leu2035Met
ENST00000262367.9:c.6103T>A	ENSP00000262367.5:p.Leu2035Met
ENST00000382070.7:c.5989T>A	ENSP00000371502.3:p.Leu1997Met
NM_001079846.1:c.5989T>A	NP_001073315.1:p.Leu1997Met
NM_004380.2:c.6103T>A	NP_004371.2:p.Leu2035Met
XM_005255124.3:c.6058T>A	XP_005255181.1:p.Leu2020Met
XM_005255125.3:c.5686T>A	XP_005255182.1:p.Leu1896Met
XM_006720848.2:c.5842T>A	XP_006720911.1:p.Leu1948Met
XM_011522380.1:c.6049T>A	XP_011520682.1:p.Leu2017Met
XM_011522381.1:c.5350T>A	XP_011520683.1:p.Leu1784Met
XM_005255124.4:c.6058T>A	XP_005255181.1:p.Leu2020Met
XM_005255125.4:c.5686T>A	XP_005255182.1:p.Leu1896Met
XM_006720848.3:c.5842T>A	XP_006720911.1:p.Leu1948Met
XM_011522381.2:c.5350T>A	XP_011520683.1:p.Leu1784Met
XM_017022944.1:c.6097T>A	XP_016878433.1:p.Leu2033Met
NM_004380.3:c.6103T>A MANE Select	NP_004371.2:p.Leu2035Met