Canonical Allele Identifier: CA394553635

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728723G>C , CM000678.2:g.3728723G>C	GRCh38
NC_000016.9:g.3778724G>C , CM000678.1:g.3778724G>C	GRCh37
NC_000016.8:g.3718725G>C	NCBI36
NG_009873.1:g.156398C>G
NG_009873.2:g.156991C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6324C>G MANE Select	NP_004371.2:p.Tyr2108Ter
ENST00000262367.10:c.6324C>G MANE Select	ENSP00000262367.5:p.Tyr2108Ter
NM_001079846.1:c.6210C>G	NP_001073315.1:p.Tyr2070Ter
NM_004380.2:c.6324C>G	NP_004371.2:p.Tyr2108Ter
ENST00000262367.9:c.6324C>G	ENSP00000262367.5:p.Tyr2108Ter
ENST00000382070.7:c.6210C>G	ENSP00000371502.3:p.Tyr2070Ter
XM_005255124.3:c.6279C>G	XP_005255181.1:p.Tyr2093Ter
XM_005255124.4:c.6279C>G	XP_005255181.1:p.Tyr2093Ter
XM_005255125.3:c.5907C>G	XP_005255182.1:p.Tyr1969Ter
XM_005255125.4:c.5907C>G	XP_005255182.1:p.Tyr1969Ter
XM_006720848.2:c.6063C>G	XP_006720911.1:p.Tyr2021Ter
XM_006720848.3:c.6063C>G	XP_006720911.1:p.Tyr2021Ter
XM_011522380.1:c.6270C>G	XP_011520682.1:p.Tyr2090Ter
XM_011522381.1:c.5571C>G	XP_011520683.1:p.Tyr1857Ter
XM_011522381.2:c.5571C>G	XP_011520683.1:p.Tyr1857Ter
XM_017022944.1:c.6318C>G	XP_016878433.1:p.Tyr2106Ter