Canonical Allele Identifier: CA394556337

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3830747A>T (hg19) ; chr16:g.3780746A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3780746A>T , CM000678.2:g.3780746A>T	GRCh38
NC_000016.9:g.3830747A>T , CM000678.1:g.3830747A>T	GRCh37
NC_000016.8:g.3770748A>T	NCBI36
NG_009873.1:g.104375T>A
NG_009873.2:g.104968T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.1809T>A MANE Select	ENSP00000262367.5:p.His603Gln
ENST00000262367.9:c.1809T>A	ENSP00000262367.5:p.His603Gln
ENST00000382070.7:c.1695T>A	ENSP00000371502.3:p.His565Gln
ENST00000570939.2:c.414T>A	ENSP00000461002.2:p.His138Gln
ENST00000572134.1:c.122T>A
NM_001079846.1:c.1695T>A	NP_001073315.1:p.His565Gln
NM_004380.2:c.1809T>A	NP_004371.2:p.His603Gln
XM_005255124.3:c.1809T>A	XP_005255181.1:p.His603Gln
XM_005255125.3:c.1809T>A	XP_005255182.1:p.His603Gln
XM_006720848.2:c.1809T>A	XP_006720911.1:p.His603Gln
XM_011522380.1:c.1755T>A	XP_011520682.1:p.His585Gln
XM_011522381.1:c.1056T>A	XP_011520683.1:p.His352Gln
XM_011522382.1:c.1809T>A	XP_011520684.1:p.His603Gln
XM_005255124.4:c.1809T>A	XP_005255181.1:p.His603Gln
XM_005255125.4:c.1809T>A	XP_005255182.1:p.His603Gln
XM_006720848.3:c.1809T>A	XP_006720911.1:p.His603Gln
XM_011522381.2:c.1056T>A	XP_011520683.1:p.His352Gln
XM_011522382.3:c.1809T>A	XP_011520684.1:p.His603Gln
XM_017022944.1:c.1809T>A	XP_016878433.1:p.His603Gln
NM_004380.3:c.1809T>A MANE Select	NP_004371.2:p.His603Gln