Canonical Allele Identifier: CA394561364

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850719C>A , CM000678.2:g.3850719C>A	GRCh38
NC_000016.9:g.3900720C>A , CM000678.1:g.3900720C>A	GRCh37
NC_000016.8:g.3840721C>A	NCBI36
NG_009873.1:g.34402G>T
NG_009873.2:g.34995G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.376G>T MANE Select	NP_004371.2:p.Gly126Ter
ENST00000262367.10:c.376G>T MANE Select	ENSP00000262367.5:p.Gly126Ter
NM_001079846.1:c.376G>T	NP_001073315.1:p.Gly126Ter
NM_004380.2:c.376G>T	NP_004371.2:p.Gly126Ter
ENST00000262367.9:c.376G>T	ENSP00000262367.5:p.Gly126Ter
ENST00000382070.7:c.376G>T	ENSP00000371502.3:p.Gly126Ter
XM_005255124.3:c.376G>T	XP_005255181.1:p.Gly126Ter
XM_005255124.4:c.376G>T	XP_005255181.1:p.Gly126Ter
XM_005255125.3:c.376G>T	XP_005255182.1:p.Gly126Ter
XM_005255125.4:c.376G>T	XP_005255182.1:p.Gly126Ter
XM_006720848.2:c.376G>T	XP_006720911.1:p.Gly126Ter
XM_006720848.3:c.376G>T	XP_006720911.1:p.Gly126Ter
XM_011522380.1:c.322G>T	XP_011520682.1:p.Gly108Ter
XM_011522382.1:c.376G>T	XP_011520684.1:p.Gly126Ter
XM_011522382.3:c.376G>T	XP_011520684.1:p.Gly126Ter
XM_017022944.1:c.376G>T	XP_016878433.1:p.Gly126Ter