Canonical Allele Identifier: CA7869416

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3731829C>T , CM000678.2:g.3731829C>T	GRCh38
NC_000016.9:g.3781830C>T , CM000678.1:g.3781830C>T	GRCh37
NC_000016.8:g.3721831C>T	NCBI36
NG_009873.1:g.153292G>A
NG_009873.2:g.153885G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4837G>A MANE Select	NP_004371.2:p.Val1613Met
ENST00000262367.10:c.4837G>A MANE Select	ENSP00000262367.5:p.Val1613Met
NM_001079846.1:c.4723G>A	NP_001073315.1:p.Val1575Met
NM_004380.2:c.4837G>A	NP_004371.2:p.Val1613Met
ENST00000262367.9:c.4837G>A	ENSP00000262367.5:p.Val1613Met
ENST00000382070.7:c.4723G>A	ENSP00000371502.3:p.Val1575Met
XM_005255124.3:c.4792G>A	XP_005255181.1:p.Val1598Met
XM_005255124.4:c.4792G>A	XP_005255181.1:p.Val1598Met
XM_005255125.3:c.4420G>A	XP_005255182.1:p.Val1474Met
XM_005255125.4:c.4420G>A	XP_005255182.1:p.Val1474Met
XM_006720848.2:c.4576G>A	XP_006720911.1:p.Val1526Met
XM_006720848.3:c.4576G>A	XP_006720911.1:p.Val1526Met
XM_011522380.1:c.4783G>A	XP_011520682.1:p.Val1595Met
XM_011522381.1:c.4084G>A	XP_011520683.1:p.Val1362Met
XM_011522381.2:c.4084G>A	XP_011520683.1:p.Val1362Met
XM_017022944.1:c.4831G>A	XP_016878433.1:p.Val1611Met