Canonical Allele Identifier: CA493393740

Gene: CREBBP

Linked Data

• dbSNP Id: rs1210011907
• gnomAD v2: 16-3778871-G-A
• gnomAD v4: 16-3728870-G-A
• MyVariant Identifiers: chr16:g.3778871G>A (hg19) ; chr16:g.3728870G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728870G>A , CM000678.2:g.3728870G>A	GRCh38
NC_000016.9:g.3778871G>A , CM000678.1:g.3778871G>A	GRCh37
NC_000016.8:g.3718872G>A	NCBI36
NG_009873.1:g.156251C>T
NG_009873.2:g.156844C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6177C>T MANE Select	ENSP00000262367.5:p.Pro2059=
ENST00000262367.9:c.6177C>T	ENSP00000262367.5:p.Pro2059=
ENST00000382070.7:c.6063C>T	ENSP00000371502.3:p.Pro2021=
NM_001079846.1:c.6063C>T	NP_001073315.1:p.Pro2021=
NM_004380.2:c.6177C>T	NP_004371.2:p.Pro2059=
XM_005255124.3:c.6132C>T	XP_005255181.1:p.Pro2044=
XM_005255125.3:c.5760C>T	XP_005255182.1:p.Pro1920=
XM_006720848.2:c.5916C>T	XP_006720911.1:p.Pro1972=
XM_011522380.1:c.6123C>T	XP_011520682.1:p.Pro2041=
XM_011522381.1:c.5424C>T	XP_011520683.1:p.Pro1808=
XM_005255124.4:c.6132C>T	XP_005255181.1:p.Pro2044=
XM_005255125.4:c.5760C>T	XP_005255182.1:p.Pro1920=
XM_006720848.3:c.5916C>T	XP_006720911.1:p.Pro1972=
XM_011522381.2:c.5424C>T	XP_011520683.1:p.Pro1808=
XM_017022944.1:c.6171C>T	XP_016878433.1:p.Pro2057=
NM_004380.3:c.6177C>T MANE Select	NP_004371.2:p.Pro2059=