Canonical Allele Identifier: CA394553504

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304311
• MyVariant Identifiers: chr16:g.3778662G>T (hg19) ; chr16:g.3728661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728661G>T , CM000678.2:g.3728661G>T	GRCh38
NC_000016.9:g.3778662G>T , CM000678.1:g.3778662G>T	GRCh37
NC_000016.8:g.3718663G>T	NCBI36
NG_009873.1:g.156460C>A
NG_009873.2:g.157053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6386C>A MANE Select	ENSP00000262367.5:p.Pro2129His
ENST00000262367.9:c.6386C>A	ENSP00000262367.5:p.Pro2129His
ENST00000382070.7:c.6272C>A	ENSP00000371502.3:p.Pro2091His
NM_001079846.1:c.6272C>A	NP_001073315.1:p.Pro2091His
NM_004380.2:c.6386C>A	NP_004371.2:p.Pro2129His
XM_005255124.3:c.6341C>A	XP_005255181.1:p.Pro2114His
XM_005255125.3:c.5969C>A	XP_005255182.1:p.Pro1990His
XM_006720848.2:c.6125C>A	XP_006720911.1:p.Pro2042His
XM_011522380.1:c.6332C>A	XP_011520682.1:p.Pro2111His
XM_011522381.1:c.5633C>A	XP_011520683.1:p.Pro1878His
XM_005255124.4:c.6341C>A	XP_005255181.1:p.Pro2114His
XM_005255125.4:c.5969C>A	XP_005255182.1:p.Pro1990His
XM_006720848.3:c.6125C>A	XP_006720911.1:p.Pro2042His
XM_011522381.2:c.5633C>A	XP_011520683.1:p.Pro1878His
XM_017022944.1:c.6380C>A	XP_016878433.1:p.Pro2127His
NM_004380.3:c.6386C>A MANE Select	NP_004371.2:p.Pro2129His