Canonical Allele Identifier: CA12179513
Gene: RREB1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7240344A>T , CM000668.2:g.7240344A>T GRCh38
NC_000006.11:g.7240577A>T , CM000668.1:g.7240577A>T GRCh37
NC_000006.10:g.7185576A>T NCBI36
NG_016201.1:g.137748A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000379938.7:c.3809-94A>T MANE Select ENSP00000369270.2:n.3809-94A>T
ENST00000334984.10:c.3809-94A>T ENSP00000335574.6:n.3809-94A>T
ENST00000349384.10:c.3809-6080A>T ENSP00000305560.10:n.3809-6080A>T
ENST00000379933.7:c.3809-6080A>T ENSP00000369265.3:n.3809-6080A>T
ENST00000379938.6:c.3809-94A>T ENSP00000369270.2:n.3809-94A>T
ENST00000611109.1:c.1016-6080A>T ENSP00000483108.1:n.1016-6080A>T
NM_001003698.3:c.3809-6080A>T NP_001003698.1:n.3809-6080A>T
NM_001003699.3:c.3809-94A>T NP_001003699.1:n.3809-94A>T
NM_001003700.1:c.3809-94A>T NP_001003700.1:n.3809-94A>T
NM_001168344.1:c.3809-6080A>T NP_001161816.1:n.3809-6080A>T
XM_005249275.2:c.3809-94A>T XP_005249332.1:n.3809-94A>T
XM_006715157.2:c.3809-94A>T XP_006715220.1:n.3809-94A>T
XM_006715158.2:c.3809-94A>T XP_006715221.1:n.3809-94A>T
XM_011514791.1:c.3809-94A>T XP_011513093.1:n.3809-94A>T
XM_011514792.1:c.3809-94A>T XP_011513094.1:n.3809-94A>T
XM_011514793.1:c.3809-94A>T XP_011513095.1:n.3809-94A>T
XM_011514794.1:c.3644-94A>T XP_011513096.1:n.3644-94A>T
XM_011514795.1:c.3809-8167A>T XP_011513097.1:n.3809-8167A>T
NM_001003699.4:c.3809-94A>T MANE Select NP_001003699.1:n.3809-94A>T
NM_001003698.4:c.3809-6080A>T NP_001003698.1:n.3809-6080A>T
NM_001003700.2:c.3809-94A>T NP_001003700.1:n.3809-94A>T
NM_001168344.2:c.3809-6080A>T NP_001161816.1:n.3809-6080A>T