Canonical Allele Identifier: CA394554215

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151306140
• MyVariant Identifiers: chr16:g.3778944A>G (hg19) ; chr16:g.3728943A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728943A>G , CM000678.2:g.3728943A>G	GRCh38
NC_000016.9:g.3778944A>G , CM000678.1:g.3778944A>G	GRCh37
NC_000016.8:g.3718945A>G	NCBI36
NG_009873.1:g.156178T>C
NG_009873.2:g.156771T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6104T>C MANE Select	ENSP00000262367.5:p.Leu2035Ser
ENST00000262367.9:c.6104T>C	ENSP00000262367.5:p.Leu2035Ser
ENST00000382070.7:c.5990T>C	ENSP00000371502.3:p.Leu1997Ser
NM_001079846.1:c.5990T>C	NP_001073315.1:p.Leu1997Ser
NM_004380.2:c.6104T>C	NP_004371.2:p.Leu2035Ser
XM_005255124.3:c.6059T>C	XP_005255181.1:p.Leu2020Ser
XM_005255125.3:c.5687T>C	XP_005255182.1:p.Leu1896Ser
XM_006720848.2:c.5843T>C	XP_006720911.1:p.Leu1948Ser
XM_011522380.1:c.6050T>C	XP_011520682.1:p.Leu2017Ser
XM_011522381.1:c.5351T>C	XP_011520683.1:p.Leu1784Ser
XM_005255124.4:c.6059T>C	XP_005255181.1:p.Leu2020Ser
XM_005255125.4:c.5687T>C	XP_005255182.1:p.Leu1896Ser
XM_006720848.3:c.5843T>C	XP_006720911.1:p.Leu1948Ser
XM_011522381.2:c.5351T>C	XP_011520683.1:p.Leu1784Ser
XM_017022944.1:c.6098T>C	XP_016878433.1:p.Leu2033Ser
NM_004380.3:c.6104T>C MANE Select	NP_004371.2:p.Leu2035Ser