Canonical Allele Identifier: CA394549847

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3769310G>A , CM000678.2:g.3769310G>A	GRCh38
NC_000016.9:g.3819311G>A , CM000678.1:g.3819311G>A	GRCh37
NC_000016.8:g.3759312G>A	NCBI36
NG_009873.1:g.115811C>T
NG_009873.2:g.116404C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2924C>T MANE Select	NP_004371.2:p.Pro975Leu
ENST00000262367.10:c.2924C>T MANE Select	ENSP00000262367.5:p.Pro975Leu
NM_001079846.1:c.2810C>T	NP_001073315.1:p.Pro937Leu
NM_004380.2:c.2924C>T	NP_004371.2:p.Pro975Leu
ENST00000262367.9:c.2924C>T	ENSP00000262367.5:p.Pro975Leu
ENST00000382070.7:c.2810C>T	ENSP00000371502.3:p.Pro937Leu
ENST00000570939.2:c.1529C>T	ENSP00000461002.2:p.Pro510Leu
ENST00000573672.1:n.178C>T
XM_005255124.3:c.2879C>T	XP_005255181.1:p.Pro960Leu
XM_005255124.4:c.2879C>T	XP_005255181.1:p.Pro960Leu
XM_005255125.3:c.2507C>T	XP_005255182.1:p.Pro836Leu
XM_005255125.4:c.2507C>T	XP_005255182.1:p.Pro836Leu
XM_006720848.2:c.2924C>T	XP_006720911.1:p.Pro975Leu
XM_006720848.3:c.2924C>T	XP_006720911.1:p.Pro975Leu
XM_011522380.1:c.2870C>T	XP_011520682.1:p.Pro957Leu
XM_011522381.1:c.2171C>T	XP_011520683.1:p.Pro724Leu
XM_011522381.2:c.2171C>T	XP_011520683.1:p.Pro724Leu
XM_011522382.1:c.2924C>T	XP_011520684.1:p.Pro975Leu
XM_011522382.3:c.2924C>T	XP_011520684.1:p.Pro975Leu
XM_017022944.1:c.2918C>T	XP_016878433.1:p.Pro973Leu