Canonical Allele Identifier: CA394551156

Gene: CREBBP

Linked Data

• dbSNP Id: rs1798875128
• gnomAD v4: 16-3728110-G-A
• MyVariant Identifiers: chr16:g.3778111G>A (hg19) ; chr16:g.3728110G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728110G>A , CM000678.2:g.3728110G>A	GRCh38
NC_000016.9:g.3778111G>A , CM000678.1:g.3778111G>A	GRCh37
NC_000016.8:g.3718112G>A	NCBI36
NG_009873.1:g.157011C>T
NG_009873.2:g.157604C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6937C>T MANE Select	ENSP00000262367.5:p.Pro2313Ser
ENST00000262367.9:c.6937C>T	ENSP00000262367.5:p.Pro2313Ser
ENST00000382070.7:c.6823C>T	ENSP00000371502.3:p.Pro2275Ser
NM_001079846.1:c.6823C>T	NP_001073315.1:p.Pro2275Ser
NM_004380.2:c.6937C>T	NP_004371.2:p.Pro2313Ser
XM_005255124.3:c.6892C>T	XP_005255181.1:p.Pro2298Ser
XM_005255125.3:c.6520C>T	XP_005255182.1:p.Pro2174Ser
XM_006720848.2:c.6676C>T	XP_006720911.1:p.Pro2226Ser
XM_011522380.1:c.6883C>T	XP_011520682.1:p.Pro2295Ser
XM_011522381.1:c.6184C>T	XP_011520683.1:p.Pro2062Ser
XM_005255124.4:c.6892C>T	XP_005255181.1:p.Pro2298Ser
XM_005255125.4:c.6520C>T	XP_005255182.1:p.Pro2174Ser
XM_006720848.3:c.6676C>T	XP_006720911.1:p.Pro2226Ser
XM_011522381.2:c.6184C>T	XP_011520683.1:p.Pro2062Ser
XM_017022944.1:c.6931C>T	XP_016878433.1:p.Pro2311Ser
NM_004380.3:c.6937C>T MANE Select	NP_004371.2:p.Pro2313Ser