Canonical Allele Identifier: CA394551430

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3820830G>C (hg19) ; chr16:g.3770829G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3770829G>C , CM000678.2:g.3770829G>C	GRCh38
NC_000016.9:g.3820830G>C , CM000678.1:g.3820830G>C	GRCh37
NC_000016.8:g.3760831G>C	NCBI36
NG_009873.1:g.114292C>G
NG_009873.2:g.114885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.2621C>G MANE Select	ENSP00000262367.5:p.Pro874Arg
ENST00000262367.9:c.2621C>G	ENSP00000262367.5:p.Pro874Arg
ENST00000382070.7:c.2507C>G	ENSP00000371502.3:p.Pro836Arg
ENST00000570939.2:c.1226C>G	ENSP00000461002.2:p.Pro409Arg
NM_001079846.1:c.2507C>G	NP_001073315.1:p.Pro836Arg
NM_004380.2:c.2621C>G	NP_004371.2:p.Pro874Arg
XM_005255124.3:c.2576C>G	XP_005255181.1:p.Pro859Arg
XM_005255125.3:c.2464-1476C>G	XP_005255182.1:n.2464-1476C>G
XM_006720848.2:c.2621C>G	XP_006720911.1:p.Pro874Arg
XM_011522380.1:c.2567C>G	XP_011520682.1:p.Pro856Arg
XM_011522381.1:c.1868C>G	XP_011520683.1:p.Pro623Arg
XM_011522382.1:c.2621C>G	XP_011520684.1:p.Pro874Arg
XM_005255124.4:c.2576C>G	XP_005255181.1:p.Pro859Arg
XM_005255125.4:c.2464-1476C>G	XP_005255182.1:n.2464-1476C>G
XM_006720848.3:c.2621C>G	XP_006720911.1:p.Pro874Arg
XM_011522381.2:c.1868C>G	XP_011520683.1:p.Pro623Arg
XM_011522382.3:c.2621C>G	XP_011520684.1:p.Pro874Arg
XM_017022944.1:c.2615C>G	XP_016878433.1:p.Pro872Arg
NM_004380.3:c.2621C>G MANE Select	NP_004371.2:p.Pro874Arg