Canonical Allele Identifier: CA394550741

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151299712
• MyVariant Identifiers: chr16:g.3778014G>A (hg19) ; chr16:g.3728013G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728013G>A , CM000678.2:g.3728013G>A	GRCh38
NC_000016.9:g.3778014G>A , CM000678.1:g.3778014G>A	GRCh37
NC_000016.8:g.3718015G>A	NCBI36
NG_009873.1:g.157108C>T
NG_009873.2:g.157701C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7034C>T MANE Select	ENSP00000262367.5:p.Ser2345Phe
ENST00000262367.9:c.7034C>T	ENSP00000262367.5:p.Ser2345Phe
ENST00000382070.7:c.6920C>T	ENSP00000371502.3:p.Ser2307Phe
NM_001079846.1:c.6920C>T	NP_001073315.1:p.Ser2307Phe
NM_004380.2:c.7034C>T	NP_004371.2:p.Ser2345Phe
XM_005255124.3:c.6989C>T	XP_005255181.1:p.Ser2330Phe
XM_005255125.3:c.6617C>T	XP_005255182.1:p.Ser2206Phe
XM_006720848.2:c.6773C>T	XP_006720911.1:p.Ser2258Phe
XM_011522380.1:c.6980C>T	XP_011520682.1:p.Ser2327Phe
XM_011522381.1:c.6281C>T	XP_011520683.1:p.Ser2094Phe
XM_005255124.4:c.6989C>T	XP_005255181.1:p.Ser2330Phe
XM_005255125.4:c.6617C>T	XP_005255182.1:p.Ser2206Phe
XM_006720848.3:c.6773C>T	XP_006720911.1:p.Ser2258Phe
XM_011522381.2:c.6281C>T	XP_011520683.1:p.Ser2094Phe
XM_017022944.1:c.7028C>T	XP_016878433.1:p.Ser2343Phe
NM_004380.3:c.7034C>T MANE Select	NP_004371.2:p.Ser2345Phe