Canonical Allele Identifier: CA394550576

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777968A>C (hg19) ; chr16:g.3727967A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727967A>C , CM000678.2:g.3727967A>C	GRCh38
NC_000016.9:g.3777968A>C , CM000678.1:g.3777968A>C	GRCh37
NC_000016.8:g.3717969A>C	NCBI36
NG_009873.1:g.157154T>G
NG_009873.2:g.157747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7080T>G MANE Select	ENSP00000262367.5:p.His2360Gln
ENST00000262367.9:c.7080T>G	ENSP00000262367.5:p.His2360Gln
ENST00000382070.7:c.6966T>G	ENSP00000371502.3:p.His2322Gln
NM_001079846.1:c.6966T>G	NP_001073315.1:p.His2322Gln
NM_004380.2:c.7080T>G	NP_004371.2:p.His2360Gln
XM_005255124.3:c.7035T>G	XP_005255181.1:p.His2345Gln
XM_005255125.3:c.6663T>G	XP_005255182.1:p.His2221Gln
XM_006720848.2:c.6819T>G	XP_006720911.1:p.His2273Gln
XM_011522380.1:c.7026T>G	XP_011520682.1:p.His2342Gln
XM_011522381.1:c.6327T>G	XP_011520683.1:p.His2109Gln
XM_005255124.4:c.7035T>G	XP_005255181.1:p.His2345Gln
XM_005255125.4:c.6663T>G	XP_005255182.1:p.His2221Gln
XM_006720848.3:c.6819T>G	XP_006720911.1:p.His2273Gln
XM_011522381.2:c.6327T>G	XP_011520683.1:p.His2109Gln
XM_017022944.1:c.7074T>G	XP_016878433.1:p.His2358Gln
NM_004380.3:c.7080T>G MANE Select	NP_004371.2:p.His2360Gln