Canonical Allele Identifier: CA7869032

Gene: CREBBP

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728386T>G , CM000678.2:g.3728386T>G	GRCh38
NC_000016.9:g.3778387T>G , CM000678.1:g.3778387T>G	GRCh37
NC_000016.8:g.3718388T>G	NCBI36
NG_009873.1:g.156735A>C
NG_009873.2:g.157328A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_004380.3:c.6661A>C MANE Select	NP_004371.2:p.Met2221Leu
ENST00000262367.10:c.6661A>C MANE Select	ENSP00000262367.5:p.Met2221Leu
NM_001079846.1:c.6547A>C	NP_001073315.1:p.Met2183Leu
NM_004380.2:c.6661A>C	NP_004371.2:p.Met2221Leu
ENST00000262367.9:c.6661A>C	ENSP00000262367.5:p.Met2221Leu
ENST00000382070.7:c.6547A>C	ENSP00000371502.3:p.Met2183Leu
XM_005255124.3:c.6616A>C	XP_005255181.1:p.Met2206Leu
XM_005255124.4:c.6616A>C	XP_005255181.1:p.Met2206Leu
XM_005255125.3:c.6244A>C	XP_005255182.1:p.Met2082Leu
XM_005255125.4:c.6244A>C	XP_005255182.1:p.Met2082Leu
XM_006720848.2:c.6400A>C	XP_006720911.1:p.Met2134Leu
XM_006720848.3:c.6400A>C	XP_006720911.1:p.Met2134Leu
XM_011522380.1:c.6607A>C	XP_011520682.1:p.Met2203Leu
XM_011522381.1:c.5908A>C	XP_011520683.1:p.Met1970Leu
XM_011522381.2:c.5908A>C	XP_011520683.1:p.Met1970Leu
XM_017022944.1:c.6655A>C	XP_016878433.1:p.Met2219Leu