Canonical Allele Identifier: CA271440

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728598G>A , CM000678.2:g.3728598G>A	GRCh38
NC_000016.9:g.3778599G>A , CM000678.1:g.3778599G>A	GRCh37
NC_000016.8:g.3718600G>A	NCBI36
NG_009873.1:g.156523C>T
NG_009873.2:g.157116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6449C>T MANE Select	ENSP00000262367.5:p.Pro2150Leu
ENST00000262367.9:c.6449C>T	ENSP00000262367.5:p.Pro2150Leu
ENST00000382070.7:c.6335C>T	ENSP00000371502.3:p.Pro2112Leu
NM_001079846.1:c.6335C>T	NP_001073315.1:p.Pro2112Leu
NM_004380.2:c.6449C>T	NP_004371.2:p.Pro2150Leu
XM_005255124.3:c.6404C>T	XP_005255181.1:p.Pro2135Leu
XM_005255125.3:c.6032C>T	XP_005255182.1:p.Pro2011Leu
XM_006720848.2:c.6188C>T	XP_006720911.1:p.Pro2063Leu
XM_011522380.1:c.6395C>T	XP_011520682.1:p.Pro2132Leu
XM_011522381.1:c.5696C>T	XP_011520683.1:p.Pro1899Leu
XM_005255124.4:c.6404C>T	XP_005255181.1:p.Pro2135Leu
XM_005255125.4:c.6032C>T	XP_005255182.1:p.Pro2011Leu
XM_006720848.3:c.6188C>T	XP_006720911.1:p.Pro2063Leu
XM_011522381.2:c.5696C>T	XP_011520683.1:p.Pro1899Leu
XM_017022944.1:c.6443C>T	XP_016878433.1:p.Pro2148Leu
NM_004380.3:c.6449C>T MANE Select	NP_004371.2:p.Pro2150Leu