Canonical Allele Identifier: CA362224390

Gene: CPEB4

Linked Data

• gnomAD v4: 5-173932491-C-A
• MyVariant Identifiers: chr5:g.173359494C>A (hg19) ; chr5:g.173932491C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.173932491C>A , CM000667.2:g.173932491C>A	GRCh38
NC_000005.9:g.173359494C>A , CM000667.1:g.173359494C>A	GRCh37
NC_000005.8:g.173292100C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265085.10:c.1249C>A MANE Select	ENSP00000265085.5:p.Leu417Ile
ENST00000657000.1:c.-20-12476C>A	ENSP00000499433.1:n.-20-12476C>A
ENST00000659882.1:c.42C>A
ENST00000265085.9:c.1249C>A	ENSP00000265085.5:p.Leu417Ile
ENST00000334035.9:c.1208-10535C>A	ENSP00000334533.5:n.1208-10535C>A
ENST00000517880.1:c.62-12476C>A	ENSP00000427990.1:n.62-12476C>A
ENST00000519152.5:c.306C>A
ENST00000519467.1:n.40-10535C>A
ENST00000519835.5:c.1208-12476C>A	ENSP00000429048.1:n.1208-12476C>A
ENST00000520867.5:c.1208-12476C>A	ENSP00000429092.1:n.1208-12476C>A
ENST00000522336.5:c.103C>A	ENSP00000430345.1:p.Leu35Ile
NM_001308189.1:c.1208-10535C>A	NP_001295118.1:n.1208-10535C>A
NM_001308191.1:c.1208-12476C>A	NP_001295120.1:n.1208-12476C>A
NM_001308192.1:c.103C>A	NP_001295121.1:p.Leu35Ile
NM_001308193.1:c.62-12476C>A	NP_001295122.1:n.62-12476C>A
NM_030627.2:c.1249C>A	NP_085130.2:p.Leu417Ile
NM_030627.3:c.1249C>A	NP_085130.2:p.Leu417Ile
XM_005265994.1:c.1249C>A	XP_005266051.1:p.Leu417Ile
XM_011534660.1:c.1249C>A	XP_011532962.1:p.Leu417Ile
XM_011534661.1:c.1208-10393C>A	XP_011532963.1:n.1208-10393C>A
XM_011534660.2:c.1249C>A	XP_011532962.1:p.Leu417Ile
XM_011534661.2:c.1208-10393C>A	XP_011532963.1:n.1208-10393C>A
NM_030627.4:c.1249C>A MANE Select	NP_085130.2:p.Leu417Ile
NM_001308189.2:c.1208-10535C>A	NP_001295118.1:n.1208-10535C>A
NM_001308191.2:c.1208-12476C>A	NP_001295120.1:n.1208-12476C>A
NM_001308192.2:c.103C>A	NP_001295121.1:p.Leu35Ile
NM_001308193.2:c.62-12476C>A	NP_001295122.1:n.62-12476C>A