Canonical Allele Identifier: CA394554309

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728965-G-A
• MyVariant Identifiers: chr16:g.3778966G>A (hg19) ; chr16:g.3728965G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728965G>A , CM000678.2:g.3728965G>A	GRCh38
NC_000016.9:g.3778966G>A , CM000678.1:g.3778966G>A	GRCh37
NC_000016.8:g.3718967G>A	NCBI36
NG_009873.1:g.156156C>T
NG_009873.2:g.156749C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6082C>T MANE Select	ENSP00000262367.5:p.Gln2028Ter
ENST00000262367.9:c.6082C>T	ENSP00000262367.5:p.Gln2028Ter
ENST00000382070.7:c.5968C>T	ENSP00000371502.3:p.Gln1990Ter
NM_001079846.1:c.5968C>T	NP_001073315.1:p.Gln1990Ter
NM_004380.2:c.6082C>T	NP_004371.2:p.Gln2028Ter
XM_005255124.3:c.6037C>T	XP_005255181.1:p.Gln2013Ter
XM_005255125.3:c.5665C>T	XP_005255182.1:p.Gln1889Ter
XM_006720848.2:c.5821C>T	XP_006720911.1:p.Gln1941Ter
XM_011522380.1:c.6028C>T	XP_011520682.1:p.Gln2010Ter
XM_011522381.1:c.5329C>T	XP_011520683.1:p.Gln1777Ter
XM_005255124.4:c.6037C>T	XP_005255181.1:p.Gln2013Ter
XM_005255125.4:c.5665C>T	XP_005255182.1:p.Gln1889Ter
XM_006720848.3:c.5821C>T	XP_006720911.1:p.Gln1941Ter
XM_011522381.2:c.5329C>T	XP_011520683.1:p.Gln1777Ter
XM_017022944.1:c.6076C>T	XP_016878433.1:p.Gln2026Ter
NM_004380.3:c.6082C>T MANE Select	NP_004371.2:p.Gln2028Ter