Canonical Allele Identifier: CA394562403

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3900918C>A (hg19) ; chr16:g.3850917C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3850917C>A , CM000678.2:g.3850917C>A	GRCh38
NC_000016.9:g.3900918C>A , CM000678.1:g.3900918C>A	GRCh37
NC_000016.8:g.3840919C>A	NCBI36
NG_009873.1:g.34204G>T
NG_009873.2:g.34797G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.178G>T MANE Select	ENSP00000262367.5:p.Val60Phe
ENST00000262367.9:c.178G>T	ENSP00000262367.5:p.Val60Phe
ENST00000382070.7:c.178G>T	ENSP00000371502.3:p.Val60Phe
NM_001079846.1:c.178G>T	NP_001073315.1:p.Val60Phe
NM_004380.2:c.178G>T	NP_004371.2:p.Val60Phe
XM_005255124.3:c.178G>T	XP_005255181.1:p.Val60Phe
XM_005255125.3:c.178G>T	XP_005255182.1:p.Val60Phe
XM_006720848.2:c.178G>T	XP_006720911.1:p.Val60Phe
XM_011522380.1:c.124G>T	XP_011520682.1:p.Val42Phe
XM_011522382.1:c.178G>T	XP_011520684.1:p.Val60Phe
XM_005255124.4:c.178G>T	XP_005255181.1:p.Val60Phe
XM_005255125.4:c.178G>T	XP_005255182.1:p.Val60Phe
XM_006720848.3:c.178G>T	XP_006720911.1:p.Val60Phe
XM_011522382.3:c.178G>T	XP_011520684.1:p.Val60Phe
XM_017022944.1:c.178G>T	XP_016878433.1:p.Val60Phe
NM_004380.3:c.178G>T MANE Select	NP_004371.2:p.Val60Phe