Canonical Allele Identifier: CA394551054

Gene: CREBBP

Linked Data

• dbSNP Id: rs2151300211
• MyVariant Identifiers: chr16:g.3778090T>A (hg19) ; chr16:g.3728089T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3728089T>A , CM000678.2:g.3728089T>A	GRCh38
NC_000016.9:g.3778090T>A , CM000678.1:g.3778090T>A	GRCh37
NC_000016.8:g.3718091T>A	NCBI36
NG_009873.1:g.157032A>T
NG_009873.2:g.157625A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.6958A>T MANE Select	ENSP00000262367.5:p.Met2320Leu
ENST00000262367.9:c.6958A>T	ENSP00000262367.5:p.Met2320Leu
ENST00000382070.7:c.6844A>T	ENSP00000371502.3:p.Met2282Leu
NM_001079846.1:c.6844A>T	NP_001073315.1:p.Met2282Leu
NM_004380.2:c.6958A>T	NP_004371.2:p.Met2320Leu
XM_005255124.3:c.6913A>T	XP_005255181.1:p.Met2305Leu
XM_005255125.3:c.6541A>T	XP_005255182.1:p.Met2181Leu
XM_006720848.2:c.6697A>T	XP_006720911.1:p.Met2233Leu
XM_011522380.1:c.6904A>T	XP_011520682.1:p.Met2302Leu
XM_011522381.1:c.6205A>T	XP_011520683.1:p.Met2069Leu
XM_005255124.4:c.6913A>T	XP_005255181.1:p.Met2305Leu
XM_005255125.4:c.6541A>T	XP_005255182.1:p.Met2181Leu
XM_006720848.3:c.6697A>T	XP_006720911.1:p.Met2233Leu
XM_011522381.2:c.6205A>T	XP_011520683.1:p.Met2069Leu
XM_017022944.1:c.6952A>T	XP_016878433.1:p.Met2318Leu
NM_004380.3:c.6958A>T MANE Select	NP_004371.2:p.Met2320Leu