Canonical Allele Identifier: CA394553594

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151304571
• gnomAD v4: 16-3728702-C-T
• MyVariant Identifiers: chr16:g.3778703C>T (hg19) ; chr16:g.3728702C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728702C>T , CM000678.2:g.3728702C>T	GRCh38
NC_000016.9:g.3778703C>T , CM000678.1:g.3778703C>T	GRCh37
NC_000016.8:g.3718704C>T	NCBI36
NG_009873.1:g.156419G>A
NG_009873.2:g.157012G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6345G>A MANE Select	ENSP00000262367.5:p.Met2115Ile
ENST00000262367.9:c.6345G>A	ENSP00000262367.5:p.Met2115Ile
ENST00000382070.7:c.6231G>A	ENSP00000371502.3:p.Met2077Ile
NM_001079846.1:c.6231G>A	NP_001073315.1:p.Met2077Ile
NM_004380.2:c.6345G>A	NP_004371.2:p.Met2115Ile
XM_005255124.3:c.6300G>A	XP_005255181.1:p.Met2100Ile
XM_005255125.3:c.5928G>A	XP_005255182.1:p.Met1976Ile
XM_006720848.2:c.6084G>A	XP_006720911.1:p.Met2028Ile
XM_011522380.1:c.6291G>A	XP_011520682.1:p.Met2097Ile
XM_011522381.1:c.5592G>A	XP_011520683.1:p.Met1864Ile
XM_005255124.4:c.6300G>A	XP_005255181.1:p.Met2100Ile
XM_005255125.4:c.5928G>A	XP_005255182.1:p.Met1976Ile
XM_006720848.3:c.6084G>A	XP_006720911.1:p.Met2028Ile
XM_011522381.2:c.5592G>A	XP_011520683.1:p.Met1864Ile
XM_017022944.1:c.6339G>A	XP_016878433.1:p.Met2113Ile
NM_004380.3:c.6345G>A MANE Select	NP_004371.2:p.Met2115Ile