Canonical Allele Identifier: CA3563012

Gene: CREBRF

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173090650C>T , CM000667.2:g.173090650C>T	GRCh38
NC_000005.9:g.172517653C>T , CM000667.1:g.172517653C>T	GRCh37
NC_000005.8:g.172450259C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_153607.3:c.471C>T MANE Select	NP_705835.2:p.Pro157=
ENST00000296953.6:c.471C>T MANE Select	ENSP00000296953.2:p.Pro157=
NM_001168393.1:c.471C>T	NP_001161865.1:p.Pro157=
NM_001168393.2:c.471C>T	NP_001161865.1:p.Pro157=
NM_001168394.1:c.471C>T	NP_001161866.1:p.Pro157=
NM_001168394.2:c.471C>T	NP_001161866.1:p.Pro157=
NM_153607.2:c.471C>T	NP_705835.2:p.Pro157=
ENST00000520420.5:c.471C>T	ENSP00000428290.1:p.Pro157=
ENST00000520464.1:n.748C>T
ENST00000522692.5:c.471C>T	ENSP00000431107.1:p.Pro157=
XM_005265821.3:c.447C>T	XP_005265878.1:p.Pro149=
XM_006714822.2:c.471C>T	XP_006714885.1:p.Pro157=
XM_006714822.4:c.471C>T	XP_006714885.1:p.Pro157=
XM_011534441.1:c.471C>T	XP_011532743.1:p.Pro157=
XM_011534442.1:c.447C>T	XP_011532744.1:p.Pro149=