Canonical Allele Identifier: CA394550913

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3778056G>A (hg19) ; chr16:g.3728055G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728055G>A , CM000678.2:g.3728055G>A	GRCh38
NC_000016.9:g.3778056G>A , CM000678.1:g.3778056G>A	GRCh37
NC_000016.8:g.3718057G>A	NCBI36
NG_009873.1:g.157066C>T
NG_009873.2:g.157659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6992C>T MANE Select	ENSP00000262367.5:p.Pro2331Leu
ENST00000262367.9:c.6992C>T	ENSP00000262367.5:p.Pro2331Leu
ENST00000382070.7:c.6878C>T	ENSP00000371502.3:p.Pro2293Leu
NM_001079846.1:c.6878C>T	NP_001073315.1:p.Pro2293Leu
NM_004380.2:c.6992C>T	NP_004371.2:p.Pro2331Leu
XM_005255124.3:c.6947C>T	XP_005255181.1:p.Pro2316Leu
XM_005255125.3:c.6575C>T	XP_005255182.1:p.Pro2192Leu
XM_006720848.2:c.6731C>T	XP_006720911.1:p.Pro2244Leu
XM_011522380.1:c.6938C>T	XP_011520682.1:p.Pro2313Leu
XM_011522381.1:c.6239C>T	XP_011520683.1:p.Pro2080Leu
XM_005255124.4:c.6947C>T	XP_005255181.1:p.Pro2316Leu
XM_005255125.4:c.6575C>T	XP_005255182.1:p.Pro2192Leu
XM_006720848.3:c.6731C>T	XP_006720911.1:p.Pro2244Leu
XM_011522381.2:c.6239C>T	XP_011520683.1:p.Pro2080Leu
XM_017022944.1:c.6986C>T	XP_016878433.1:p.Pro2329Leu
NM_004380.3:c.6992C>T MANE Select	NP_004371.2:p.Pro2331Leu