Canonical Allele Identifier: CA394553852

Gene: CREBBP

Linked Data

• dbSNP Id: rs1193973836
• gnomAD v2: 16-3778819-G-T
• gnomAD v4: 16-3728818-G-T
• MyVariant Identifiers: chr16:g.3778819G>T (hg19) ; chr16:g.3728818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728818G>T , CM000678.2:g.3728818G>T	GRCh38
NC_000016.9:g.3778819G>T , CM000678.1:g.3778819G>T	GRCh37
NC_000016.8:g.3718820G>T	NCBI36
NG_009873.1:g.156303C>A
NG_009873.2:g.156896C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6229C>A MANE Select	ENSP00000262367.5:p.Pro2077Thr
ENST00000262367.9:c.6229C>A	ENSP00000262367.5:p.Pro2077Thr
ENST00000382070.7:c.6115C>A	ENSP00000371502.3:p.Pro2039Thr
NM_001079846.1:c.6115C>A	NP_001073315.1:p.Pro2039Thr
NM_004380.2:c.6229C>A	NP_004371.2:p.Pro2077Thr
XM_005255124.3:c.6184C>A	XP_005255181.1:p.Pro2062Thr
XM_005255125.3:c.5812C>A	XP_005255182.1:p.Pro1938Thr
XM_006720848.2:c.5968C>A	XP_006720911.1:p.Pro1990Thr
XM_011522380.1:c.6175C>A	XP_011520682.1:p.Pro2059Thr
XM_011522381.1:c.5476C>A	XP_011520683.1:p.Pro1826Thr
XM_005255124.4:c.6184C>A	XP_005255181.1:p.Pro2062Thr
XM_005255125.4:c.5812C>A	XP_005255182.1:p.Pro1938Thr
XM_006720848.3:c.5968C>A	XP_006720911.1:p.Pro1990Thr
XM_011522381.2:c.5476C>A	XP_011520683.1:p.Pro1826Thr
XM_017022944.1:c.6223C>A	XP_016878433.1:p.Pro2075Thr
NM_004380.3:c.6229C>A MANE Select	NP_004371.2:p.Pro2077Thr