Canonical Allele Identifier: CA394550413

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3777889G>T (hg19) ; chr16:g.3727888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3727888G>T , CM000678.2:g.3727888G>T	GRCh38
NC_000016.9:g.3777889G>T , CM000678.1:g.3777889G>T	GRCh37
NC_000016.8:g.3717890G>T	NCBI36
NG_009873.1:g.157233C>A
NG_009873.2:g.157826C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.7159C>A MANE Select	ENSP00000262367.5:p.Leu2387Ile
ENST00000262367.9:c.7159C>A	ENSP00000262367.5:p.Leu2387Ile
ENST00000382070.7:c.7045C>A	ENSP00000371502.3:p.Leu2349Ile
NM_001079846.1:c.7045C>A	NP_001073315.1:p.Leu2349Ile
NM_004380.2:c.7159C>A	NP_004371.2:p.Leu2387Ile
XM_005255124.3:c.7114C>A	XP_005255181.1:p.Leu2372Ile
XM_005255125.3:c.6742C>A	XP_005255182.1:p.Leu2248Ile
XM_006720848.2:c.6898C>A	XP_006720911.1:p.Leu2300Ile
XM_011522380.1:c.7105C>A	XP_011520682.1:p.Leu2369Ile
XM_011522381.1:c.6406C>A	XP_011520683.1:p.Leu2136Ile
XM_005255124.4:c.7114C>A	XP_005255181.1:p.Leu2372Ile
XM_005255125.4:c.6742C>A	XP_005255182.1:p.Leu2248Ile
XM_006720848.3:c.6898C>A	XP_006720911.1:p.Leu2300Ile
XM_011522381.2:c.6406C>A	XP_011520683.1:p.Leu2136Ile
XM_017022944.1:c.7153C>A	XP_016878433.1:p.Leu2385Ile
NM_004380.3:c.7159C>A MANE Select	NP_004371.2:p.Leu2387Ile