Canonical Allele Identifier: CA7869014

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728315C>T , CM000678.2:g.3728315C>T	GRCh38
NC_000016.9:g.3778316C>T , CM000678.1:g.3778316C>T	GRCh37
NC_000016.8:g.3718317C>T	NCBI36
NG_009873.1:g.156806G>A
NG_009873.2:g.157399G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6732G>A MANE Select	NP_004371.2:p.Met2244Ile
ENST00000262367.10:c.6732G>A MANE Select	ENSP00000262367.5:p.Met2244Ile
NM_001079846.1:c.6618G>A	NP_001073315.1:p.Met2206Ile
NM_004380.2:c.6732G>A	NP_004371.2:p.Met2244Ile
ENST00000262367.9:c.6732G>A	ENSP00000262367.5:p.Met2244Ile
ENST00000382070.7:c.6618G>A	ENSP00000371502.3:p.Met2206Ile
XM_005255124.3:c.6687G>A	XP_005255181.1:p.Met2229Ile
XM_005255124.4:c.6687G>A	XP_005255181.1:p.Met2229Ile
XM_005255125.3:c.6315G>A	XP_005255182.1:p.Met2105Ile
XM_005255125.4:c.6315G>A	XP_005255182.1:p.Met2105Ile
XM_006720848.2:c.6471G>A	XP_006720911.1:p.Met2157Ile
XM_006720848.3:c.6471G>A	XP_006720911.1:p.Met2157Ile
XM_011522380.1:c.6678G>A	XP_011520682.1:p.Met2226Ile
XM_011522381.1:c.5979G>A	XP_011520683.1:p.Met1993Ile
XM_011522381.2:c.5979G>A	XP_011520683.1:p.Met1993Ile
XM_017022944.1:c.6726G>A	XP_016878433.1:p.Met2242Ile