Canonical Allele Identifier: CA394550496

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1030787
• ClinVar RCV Id: RCV001332436
• dbSNP Id: rs2051790513
• MyVariant Identifiers: chr16:g.3777930G>A (hg19) ; chr16:g.3727929G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727929G>A , CM000678.2:g.3727929G>A	GRCh38
NC_000016.9:g.3777930G>A , CM000678.1:g.3777930G>A	GRCh37
NC_000016.8:g.3717931G>A	NCBI36
NG_009873.1:g.157192C>T
NG_009873.2:g.157785C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7118C>T MANE Select	ENSP00000262367.5:p.Pro2373Leu
ENST00000262367.9:c.7118C>T	ENSP00000262367.5:p.Pro2373Leu
ENST00000382070.7:c.7004C>T	ENSP00000371502.3:p.Pro2335Leu
NM_001079846.1:c.7004C>T	NP_001073315.1:p.Pro2335Leu
NM_004380.2:c.7118C>T	NP_004371.2:p.Pro2373Leu
XM_005255124.3:c.7073C>T	XP_005255181.1:p.Pro2358Leu
XM_005255125.3:c.6701C>T	XP_005255182.1:p.Pro2234Leu
XM_006720848.2:c.6857C>T	XP_006720911.1:p.Pro2286Leu
XM_011522380.1:c.7064C>T	XP_011520682.1:p.Pro2355Leu
XM_011522381.1:c.6365C>T	XP_011520683.1:p.Pro2122Leu
XM_005255124.4:c.7073C>T	XP_005255181.1:p.Pro2358Leu
XM_005255125.4:c.6701C>T	XP_005255182.1:p.Pro2234Leu
XM_006720848.3:c.6857C>T	XP_006720911.1:p.Pro2286Leu
XM_011522381.2:c.6365C>T	XP_011520683.1:p.Pro2122Leu
XM_017022944.1:c.7112C>T	XP_016878433.1:p.Pro2371Leu
NM_004380.3:c.7118C>T MANE Select	NP_004371.2:p.Pro2373Leu