Canonical Allele Identifier: CA7870071

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770865G>A , CM000678.2:g.3770865G>A	GRCh38
NC_000016.9:g.3820866G>A , CM000678.1:g.3820866G>A	GRCh37
NC_000016.8:g.3760867G>A	NCBI36
NG_009873.1:g.114256C>T
NG_009873.2:g.114849C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2585C>T MANE Select	NP_004371.2:p.Thr862Met
ENST00000262367.10:c.2585C>T MANE Select	ENSP00000262367.5:p.Thr862Met
NM_001079846.1:c.2471C>T	NP_001073315.1:p.Thr824Met
NM_004380.2:c.2585C>T	NP_004371.2:p.Thr862Met
ENST00000262367.9:c.2585C>T	ENSP00000262367.5:p.Thr862Met
ENST00000382070.7:c.2471C>T	ENSP00000371502.3:p.Thr824Met
ENST00000570939.2:c.1190C>T	ENSP00000461002.2:p.Thr397Met
XM_005255124.3:c.2540C>T	XP_005255181.1:p.Thr847Met
XM_005255124.4:c.2540C>T	XP_005255181.1:p.Thr847Met
XM_005255125.3:c.2464-1512C>T	XP_005255182.1:n.2464-1512C>T
XM_005255125.4:c.2464-1512C>T	XP_005255182.1:n.2464-1512C>T
XM_006720848.2:c.2585C>T	XP_006720911.1:p.Thr862Met
XM_006720848.3:c.2585C>T	XP_006720911.1:p.Thr862Met
XM_011522380.1:c.2531C>T	XP_011520682.1:p.Thr844Met
XM_011522381.1:c.1832C>T	XP_011520683.1:p.Thr611Met
XM_011522381.2:c.1832C>T	XP_011520683.1:p.Thr611Met
XM_011522382.1:c.2585C>T	XP_011520684.1:p.Thr862Met
XM_011522382.3:c.2585C>T	XP_011520684.1:p.Thr862Met
XM_017022944.1:c.2579C>T	XP_016878433.1:p.Thr860Met