Canonical Allele Identifier: CA493393839

Gene: CREBBP

Linked Data

• dbSNP Id: rs1417238842
• gnomAD v3: 16-3728939-G-A
• gnomAD v4: 16-3728939-G-A
• MyVariant Identifiers: chr16:g.3778940G>A (hg19) ; chr16:g.3728939G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728939G>A , CM000678.2:g.3728939G>A	GRCh38
NC_000016.9:g.3778940G>A , CM000678.1:g.3778940G>A	GRCh37
NC_000016.8:g.3718941G>A	NCBI36
NG_009873.1:g.156182C>T
NG_009873.2:g.156775C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6108C>T MANE Select	ENSP00000262367.5:p.Pro2036=
ENST00000262367.9:c.6108C>T	ENSP00000262367.5:p.Pro2036=
ENST00000382070.7:c.5994C>T	ENSP00000371502.3:p.Pro1998=
NM_001079846.1:c.5994C>T	NP_001073315.1:p.Pro1998=
NM_004380.2:c.6108C>T	NP_004371.2:p.Pro2036=
XM_005255124.3:c.6063C>T	XP_005255181.1:p.Pro2021=
XM_005255125.3:c.5691C>T	XP_005255182.1:p.Pro1897=
XM_006720848.2:c.5847C>T	XP_006720911.1:p.Pro1949=
XM_011522380.1:c.6054C>T	XP_011520682.1:p.Pro2018=
XM_011522381.1:c.5355C>T	XP_011520683.1:p.Pro1785=
XM_005255124.4:c.6063C>T	XP_005255181.1:p.Pro2021=
XM_005255125.4:c.5691C>T	XP_005255182.1:p.Pro1897=
XM_006720848.3:c.5847C>T	XP_006720911.1:p.Pro1949=
XM_011522381.2:c.5355C>T	XP_011520683.1:p.Pro1785=
XM_017022944.1:c.6102C>T	XP_016878433.1:p.Pro2034=
NM_004380.3:c.6108C>T MANE Select	NP_004371.2:p.Pro2036=