Canonical Allele Identifier: CA394551149

Gene: CREBBP

Linked Data

• COSMIC: COSM96471
• MyVariant Identifiers: chr16:g.3778110G>A (hg19) ; chr16:g.3728109G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728109G>A , CM000678.2:g.3728109G>A	GRCh38
NC_000016.9:g.3778110G>A , CM000678.1:g.3778110G>A	GRCh37
NC_000016.8:g.3718111G>A	NCBI36
NG_009873.1:g.157012C>T
NG_009873.2:g.157605C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6938C>T MANE Select	ENSP00000262367.5:p.Pro2313Leu
ENST00000262367.9:c.6938C>T	ENSP00000262367.5:p.Pro2313Leu
ENST00000382070.7:c.6824C>T	ENSP00000371502.3:p.Pro2275Leu
NM_001079846.1:c.6824C>T	NP_001073315.1:p.Pro2275Leu
NM_004380.2:c.6938C>T	NP_004371.2:p.Pro2313Leu
XM_005255124.3:c.6893C>T	XP_005255181.1:p.Pro2298Leu
XM_005255125.3:c.6521C>T	XP_005255182.1:p.Pro2174Leu
XM_006720848.2:c.6677C>T	XP_006720911.1:p.Pro2226Leu
XM_011522380.1:c.6884C>T	XP_011520682.1:p.Pro2295Leu
XM_011522381.1:c.6185C>T	XP_011520683.1:p.Pro2062Leu
XM_005255124.4:c.6893C>T	XP_005255181.1:p.Pro2298Leu
XM_005255125.4:c.6521C>T	XP_005255182.1:p.Pro2174Leu
XM_006720848.3:c.6677C>T	XP_006720911.1:p.Pro2226Leu
XM_011522381.2:c.6185C>T	XP_011520683.1:p.Pro2062Leu
XM_017022944.1:c.6932C>T	XP_016878433.1:p.Pro2311Leu
NM_004380.3:c.6938C>T MANE Select	NP_004371.2:p.Pro2313Leu