Canonical Allele Identifier: CA394565303

Gene: CREBBP

Linked Data

• gnomAD v4: 16-3740448-C-A
• MyVariant Identifiers: chr16:g.3790449C>A (hg19) ; chr16:g.3740448C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740448C>A , CM000678.2:g.3740448C>A	GRCh38
NC_000016.9:g.3790449C>A , CM000678.1:g.3790449C>A	GRCh37
NC_000016.8:g.3730450C>A	NCBI36
NG_009873.1:g.144673G>T
NG_009873.2:g.145266G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.4084G>T MANE Select	ENSP00000262367.5:p.Val1362Leu
ENST00000262367.9:c.4084G>T	ENSP00000262367.5:p.Val1362Leu
ENST00000382070.7:c.3970G>T	ENSP00000371502.3:p.Val1324Leu
ENST00000570939.2:c.2719G>T	ENSP00000461002.2:p.Val907Leu
ENST00000572569.1:n.548G>T
ENST00000573517.6:c.390G>T
ENST00000574740.1:n.166G>T
ENST00000576720.1:n.3021G>T
NM_001079846.1:c.3970G>T	NP_001073315.1:p.Val1324Leu
NM_004380.2:c.4084G>T	NP_004371.2:p.Val1362Leu
XM_005255124.3:c.4039G>T	XP_005255181.1:p.Val1347Leu
XM_005255125.3:c.3667G>T	XP_005255182.1:p.Val1223Leu
XM_006720848.2:c.4084G>T	XP_006720911.1:p.Val1362Leu
XM_011522380.1:c.4030G>T	XP_011520682.1:p.Val1344Leu
XM_011522381.1:c.3331G>T	XP_011520683.1:p.Val1111Leu
XM_005255124.4:c.4039G>T	XP_005255181.1:p.Val1347Leu
XM_005255125.4:c.3667G>T	XP_005255182.1:p.Val1223Leu
XM_006720848.3:c.4084G>T	XP_006720911.1:p.Val1362Leu
XM_011522381.2:c.3331G>T	XP_011520683.1:p.Val1111Leu
XM_017022944.1:c.4078G>T	XP_016878433.1:p.Val1360Leu
NM_004380.3:c.4084G>T MANE Select	NP_004371.2:p.Val1362Leu