Canonical Allele Identifier: CA2631430077

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3850245-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850245G>A , CM000678.2:g.3850245G>A	GRCh38
NC_000016.9:g.3900246G>A , CM000678.1:g.3900246G>A	GRCh37
NC_000016.8:g.3840247G>A	NCBI36
NG_009873.1:g.34876C>T
NG_009873.2:g.35469C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.798+52C>T MANE Select	ENSP00000262367.5:n.798+52C>T
ENST00000636895.1:n.25+52C>T
ENST00000262367.9:c.798+52C>T	ENSP00000262367.5:n.798+52C>T
ENST00000382070.7:c.798+52C>T	ENSP00000371502.3:n.798+52C>T
NM_001079846.1:c.798+52C>T	NP_001073315.1:n.798+52C>T
NM_004380.2:c.798+52C>T	NP_004371.2:n.798+52C>T
XM_005255124.3:c.798+52C>T	XP_005255181.1:n.798+52C>T
XM_005255125.3:c.798+52C>T	XP_005255182.1:n.798+52C>T
XM_006720848.2:c.798+52C>T	XP_006720911.1:n.798+52C>T
XM_011522380.1:c.744+52C>T	XP_011520682.1:n.744+52C>T
XM_011522382.1:c.798+52C>T	XP_011520684.1:n.798+52C>T
XM_005255124.4:c.798+52C>T	XP_005255181.1:n.798+52C>T
XM_005255125.4:c.798+52C>T	XP_005255182.1:n.798+52C>T
XM_006720848.3:c.798+52C>T	XP_006720911.1:n.798+52C>T
XM_011522382.3:c.798+52C>T	XP_011520684.1:n.798+52C>T
XM_017022944.1:c.798+52C>T	XP_016878433.1:n.798+52C>T
NM_004380.3:c.798+52C>T MANE Select	NP_004371.2:n.798+52C>T