Canonical Allele Identifier: CA394551137

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300348
• gnomAD v4: 16-3728105-C-T
• MyVariant Identifiers: chr16:g.3778106C>T (hg19) ; chr16:g.3728105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728105C>T , CM000678.2:g.3728105C>T	GRCh38
NC_000016.9:g.3778106C>T , CM000678.1:g.3778106C>T	GRCh37
NC_000016.8:g.3718107C>T	NCBI36
NG_009873.1:g.157016G>A
NG_009873.2:g.157609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6942G>A MANE Select	ENSP00000262367.5:p.Met2314Ile
ENST00000262367.9:c.6942G>A	ENSP00000262367.5:p.Met2314Ile
ENST00000382070.7:c.6828G>A	ENSP00000371502.3:p.Met2276Ile
NM_001079846.1:c.6828G>A	NP_001073315.1:p.Met2276Ile
NM_004380.2:c.6942G>A	NP_004371.2:p.Met2314Ile
XM_005255124.3:c.6897G>A	XP_005255181.1:p.Met2299Ile
XM_005255125.3:c.6525G>A	XP_005255182.1:p.Met2175Ile
XM_006720848.2:c.6681G>A	XP_006720911.1:p.Met2227Ile
XM_011522380.1:c.6888G>A	XP_011520682.1:p.Met2296Ile
XM_011522381.1:c.6189G>A	XP_011520683.1:p.Met2063Ile
XM_005255124.4:c.6897G>A	XP_005255181.1:p.Met2299Ile
XM_005255125.4:c.6525G>A	XP_005255182.1:p.Met2175Ile
XM_006720848.3:c.6681G>A	XP_006720911.1:p.Met2227Ile
XM_011522381.2:c.6189G>A	XP_011520683.1:p.Met2063Ile
XM_017022944.1:c.6936G>A	XP_016878433.1:p.Met2312Ile
NM_004380.3:c.6942G>A MANE Select	NP_004371.2:p.Met2314Ile