Canonical Allele Identifier: CA394564044

Gene: CREBBP

Linked Data

• MyVariant Identifiers: chr16:g.3786812C>A (hg19) ; chr16:g.3736811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3736811C>A , CM000678.2:g.3736811C>A	GRCh38
NC_000016.9:g.3786812C>A , CM000678.1:g.3786812C>A	GRCh37
NC_000016.8:g.3726813C>A	NCBI36
NG_009873.1:g.148310G>T
NG_009873.2:g.148903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4399G>T MANE Select	ENSP00000262367.5:p.Val1467Leu
ENST00000262367.9:c.4399G>T	ENSP00000262367.5:p.Val1467Leu
ENST00000382070.7:c.4285G>T	ENSP00000371502.3:p.Val1429Leu
ENST00000570939.2:c.3034G>T	ENSP00000461002.2:p.Val1012Leu
ENST00000571763.5:n.189G>T
ENST00000574740.1:n.220G>T
ENST00000576720.1:n.3222G>T
NM_001079846.1:c.4285G>T	NP_001073315.1:p.Val1429Leu
NM_004380.2:c.4399G>T	NP_004371.2:p.Val1467Leu
XM_005255124.3:c.4354G>T	XP_005255181.1:p.Val1452Leu
XM_005255125.3:c.3982G>T	XP_005255182.1:p.Val1328Leu
XM_006720848.2:c.4138G>T	XP_006720911.1:p.Val1380Leu
XM_011522380.1:c.4345G>T	XP_011520682.1:p.Val1449Leu
XM_011522381.1:c.3646G>T	XP_011520683.1:p.Val1216Leu
XM_005255124.4:c.4354G>T	XP_005255181.1:p.Val1452Leu
XM_005255125.4:c.3982G>T	XP_005255182.1:p.Val1328Leu
XM_006720848.3:c.4138G>T	XP_006720911.1:p.Val1380Leu
XM_011522381.2:c.3646G>T	XP_011520683.1:p.Val1216Leu
XM_017022944.1:c.4393G>T	XP_016878433.1:p.Val1465Leu
NM_004380.3:c.4399G>T MANE Select	NP_004371.2:p.Val1467Leu