Canonical Allele Identifier: CA394551680

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770893G>T , CM000678.2:g.3770893G>T	GRCh38
NC_000016.9:g.3820894G>T , CM000678.1:g.3820894G>T	GRCh37
NC_000016.8:g.3760895G>T	NCBI36
NG_009873.1:g.114228C>A
NG_009873.2:g.114821C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.2557C>A MANE Select	NP_004371.2:p.Leu853Met
ENST00000262367.10:c.2557C>A MANE Select	ENSP00000262367.5:p.Leu853Met
NM_001079846.1:c.2443C>A	NP_001073315.1:p.Leu815Met
NM_004380.2:c.2557C>A	NP_004371.2:p.Leu853Met
ENST00000262367.9:c.2557C>A	ENSP00000262367.5:p.Leu853Met
ENST00000382070.7:c.2443C>A	ENSP00000371502.3:p.Leu815Met
ENST00000570939.2:c.1162C>A	ENSP00000461002.2:p.Leu388Met
XM_005255124.3:c.2512C>A	XP_005255181.1:p.Leu838Met
XM_005255124.4:c.2512C>A	XP_005255181.1:p.Leu838Met
XM_005255125.3:c.2464-1540C>A	XP_005255182.1:n.2464-1540C>A
XM_005255125.4:c.2464-1540C>A	XP_005255182.1:n.2464-1540C>A
XM_006720848.2:c.2557C>A	XP_006720911.1:p.Leu853Met
XM_006720848.3:c.2557C>A	XP_006720911.1:p.Leu853Met
XM_011522380.1:c.2503C>A	XP_011520682.1:p.Leu835Met
XM_011522381.1:c.1804C>A	XP_011520683.1:p.Leu602Met
XM_011522381.2:c.1804C>A	XP_011520683.1:p.Leu602Met
XM_011522382.1:c.2557C>A	XP_011520684.1:p.Leu853Met
XM_011522382.3:c.2557C>A	XP_011520684.1:p.Leu853Met
XM_017022944.1:c.2551C>A	XP_016878433.1:p.Leu851Met