Canonical Allele Identifier: CA394554200

Gene: CREBBP

Linked Data

• dbSNP Id: rs1481703137
• gnomAD v4: 16-3728937-C-A
• MyVariant Identifiers: chr16:g.3778938C>A (hg19) ; chr16:g.3728937C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728937C>A , CM000678.2:g.3728937C>A	GRCh38
NC_000016.9:g.3778938C>A , CM000678.1:g.3778938C>A	GRCh37
NC_000016.8:g.3718939C>A	NCBI36
NG_009873.1:g.156184G>T
NG_009873.2:g.156777G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262367.10:c.6110G>T MANE Select	ENSP00000262367.5:p.Arg2037Met
ENST00000262367.9:c.6110G>T	ENSP00000262367.5:p.Arg2037Met
ENST00000382070.7:c.5996G>T	ENSP00000371502.3:p.Arg1999Met
NM_001079846.1:c.5996G>T	NP_001073315.1:p.Arg1999Met
NM_004380.2:c.6110G>T	NP_004371.2:p.Arg2037Met
XM_005255124.3:c.6065G>T	XP_005255181.1:p.Arg2022Met
XM_005255125.3:c.5693G>T	XP_005255182.1:p.Arg1898Met
XM_006720848.2:c.5849G>T	XP_006720911.1:p.Arg1950Met
XM_011522380.1:c.6056G>T	XP_011520682.1:p.Arg2019Met
XM_011522381.1:c.5357G>T	XP_011520683.1:p.Arg1786Met
XM_005255124.4:c.6065G>T	XP_005255181.1:p.Arg2022Met
XM_005255125.4:c.5693G>T	XP_005255182.1:p.Arg1898Met
XM_006720848.3:c.5849G>T	XP_006720911.1:p.Arg1950Met
XM_011522381.2:c.5357G>T	XP_011520683.1:p.Arg1786Met
XM_017022944.1:c.6104G>T	XP_016878433.1:p.Arg2035Met
NM_004380.3:c.6110G>T MANE Select	NP_004371.2:p.Arg2037Met