Canonical Allele Identifier: CA271391

Gene: CREBBP

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3757373C>A , CM000678.2:g.3757373C>A	GRCh38
NC_000016.9:g.3807374C>A , CM000678.1:g.3807374C>A	GRCh37
NC_000016.8:g.3747375C>A	NCBI36
NG_009873.1:g.127748G>T
NG_009873.2:g.128341G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.3613G>T MANE Select	ENSP00000262367.5:p.Glu1205Ter
ENST00000262367.9:c.3613G>T	ENSP00000262367.5:p.Glu1205Ter
ENST00000382070.7:c.3499G>T	ENSP00000371502.3:p.Glu1167Ter
ENST00000570939.2:c.2218G>T	ENSP00000461002.2:p.Glu740Ter
NM_001079846.1:c.3499G>T	NP_001073315.1:p.Glu1167Ter
NM_004380.2:c.3613G>T	NP_004371.2:p.Glu1205Ter
XM_005255124.3:c.3568G>T	XP_005255181.1:p.Glu1190Ter
XM_005255125.3:c.3196G>T	XP_005255182.1:p.Glu1066Ter
XM_006720848.2:c.3613G>T	XP_006720911.1:p.Glu1205Ter
XM_011522380.1:c.3559G>T	XP_011520682.1:p.Glu1187Ter
XM_011522381.1:c.2860G>T	XP_011520683.1:p.Glu954Ter
XM_011522382.1:c.3613G>T	XP_011520684.1:p.Glu1205Ter
XM_005255124.4:c.3568G>T	XP_005255181.1:p.Glu1190Ter
XM_005255125.4:c.3196G>T	XP_005255182.1:p.Glu1066Ter
XM_006720848.3:c.3613G>T	XP_006720911.1:p.Glu1205Ter
XM_011522381.2:c.2860G>T	XP_011520683.1:p.Glu954Ter
XM_011522382.3:c.3613G>T	XP_011520684.1:p.Glu1205Ter
XM_017022944.1:c.3607G>T	XP_016878433.1:p.Glu1203Ter
NM_004380.3:c.3613G>T MANE Select	NP_004371.2:p.Glu1205Ter