Canonical Allele Identifier: CA394564738

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3739607G>C , CM000678.2:g.3739607G>C	GRCh38
NC_000016.9:g.3789608G>C , CM000678.1:g.3789608G>C	GRCh37
NC_000016.8:g.3729609G>C	NCBI36
NG_009873.1:g.145514C>G
NG_009873.2:g.146107C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.4251C>G MANE Select	NP_004371.2:p.Tyr1417Ter
ENST00000262367.10:c.4251C>G MANE Select	ENSP00000262367.5:p.Tyr1417Ter
NM_001079846.1:c.4137C>G	NP_001073315.1:p.Tyr1379Ter
NM_004380.2:c.4251C>G	NP_004371.2:p.Tyr1417Ter
ENST00000262367.9:c.4251C>G	ENSP00000262367.5:p.Tyr1417Ter
ENST00000382070.7:c.4137C>G	ENSP00000371502.3:p.Tyr1379Ter
ENST00000570939.2:c.2886C>G	ENSP00000461002.2:p.Tyr962Ter
ENST00000573517.6:c.557C>G
ENST00000574740.1:n.215+792C>G
ENST00000576720.1:n.3188C>G
XM_005255124.3:c.4206C>G	XP_005255181.1:p.Tyr1402Ter
XM_005255124.4:c.4206C>G	XP_005255181.1:p.Tyr1402Ter
XM_005255125.3:c.3834C>G	XP_005255182.1:p.Tyr1278Ter
XM_005255125.4:c.3834C>G	XP_005255182.1:p.Tyr1278Ter
XM_006720848.2:c.4133+792C>G	XP_006720911.1:n.4133+792C>G
XM_006720848.3:c.4133+792C>G	XP_006720911.1:n.4133+792C>G
XM_011522380.1:c.4197C>G	XP_011520682.1:p.Tyr1399Ter
XM_011522381.1:c.3498C>G	XP_011520683.1:p.Tyr1166Ter
XM_011522381.2:c.3498C>G	XP_011520683.1:p.Tyr1166Ter
XM_017022944.1:c.4245C>G	XP_016878433.1:p.Tyr1415Ter