Canonical Allele Identifier: CA394551007

Gene: CREBBP

Linked Data

• ClinVar Variation Id: 1309062
• ClinVar RCV Id: RCV001763573
• dbSNP Id: rs2151300113
• MyVariant Identifiers: chr16:g.3778078G>A (hg19) ; chr16:g.3728077G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728077G>A , CM000678.2:g.3728077G>A	GRCh38
NC_000016.9:g.3778078G>A , CM000678.1:g.3778078G>A	GRCh37
NC_000016.8:g.3718079G>A	NCBI36
NG_009873.1:g.157044C>T
NG_009873.2:g.157637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6970C>T MANE Select	ENSP00000262367.5:p.Gln2324Ter
ENST00000262367.9:c.6970C>T	ENSP00000262367.5:p.Gln2324Ter
ENST00000382070.7:c.6856C>T	ENSP00000371502.3:p.Gln2286Ter
NM_001079846.1:c.6856C>T	NP_001073315.1:p.Gln2286Ter
NM_004380.2:c.6970C>T	NP_004371.2:p.Gln2324Ter
XM_005255124.3:c.6925C>T	XP_005255181.1:p.Gln2309Ter
XM_005255125.3:c.6553C>T	XP_005255182.1:p.Gln2185Ter
XM_006720848.2:c.6709C>T	XP_006720911.1:p.Gln2237Ter
XM_011522380.1:c.6916C>T	XP_011520682.1:p.Gln2306Ter
XM_011522381.1:c.6217C>T	XP_011520683.1:p.Gln2073Ter
XM_005255124.4:c.6925C>T	XP_005255181.1:p.Gln2309Ter
XM_005255125.4:c.6553C>T	XP_005255182.1:p.Gln2185Ter
XM_006720848.3:c.6709C>T	XP_006720911.1:p.Gln2237Ter
XM_011522381.2:c.6217C>T	XP_011520683.1:p.Gln2073Ter
XM_017022944.1:c.6964C>T	XP_016878433.1:p.Gln2322Ter
NM_004380.3:c.6970C>T MANE Select	NP_004371.2:p.Gln2324Ter