Canonical Allele Identifier: CA394554436

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3728995-G-T
• MyVariant Identifiers: chr16:g.3778996G>T (hg19) ; chr16:g.3728995G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728995G>T , CM000678.2:g.3728995G>T	GRCh38
NC_000016.9:g.3778996G>T , CM000678.1:g.3778996G>T	GRCh37
NC_000016.8:g.3718997G>T	NCBI36
NG_009873.1:g.156126C>A
NG_009873.2:g.156719C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6052C>A MANE Select	ENSP00000262367.5:p.Pro2018Thr
ENST00000262367.9:c.6052C>A	ENSP00000262367.5:p.Pro2018Thr
ENST00000382070.7:c.5938C>A	ENSP00000371502.3:p.Pro1980Thr
NM_001079846.1:c.5938C>A	NP_001073315.1:p.Pro1980Thr
NM_004380.2:c.6052C>A	NP_004371.2:p.Pro2018Thr
XM_005255124.3:c.6007C>A	XP_005255181.1:p.Pro2003Thr
XM_005255125.3:c.5635C>A	XP_005255182.1:p.Pro1879Thr
XM_006720848.2:c.5791C>A	XP_006720911.1:p.Pro1931Thr
XM_011522380.1:c.5998C>A	XP_011520682.1:p.Pro2000Thr
XM_011522381.1:c.5299C>A	XP_011520683.1:p.Pro1767Thr
XM_005255124.4:c.6007C>A	XP_005255181.1:p.Pro2003Thr
XM_005255125.4:c.5635C>A	XP_005255182.1:p.Pro1879Thr
XM_006720848.3:c.5791C>A	XP_006720911.1:p.Pro1931Thr
XM_011522381.2:c.5299C>A	XP_011520683.1:p.Pro1767Thr
XM_017022944.1:c.6046C>A	XP_016878433.1:p.Pro2016Thr
NM_004380.3:c.6052C>A MANE Select	NP_004371.2:p.Pro2018Thr