Canonical Allele Identifier: CA7722162
Community Standard Title: NM_000326.5(RLBP1):c.832C>T (p.Gln278Ter)
Gene: RLBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89210407G>A , CM000677.2:g.89210407G>A GRCh38
NC_000015.9:g.89753638G>A , CM000677.1:g.89753638G>A GRCh37
NC_000015.8:g.87554642G>A NCBI36
NG_008116.1:g.16285C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000326.5:c.832C>T MANE Select NP_000317.1:p.Gln278Ter
ENST00000268125.10:c.832C>T MANE Select ENSP00000268125.5:p.Gln278Ter
NM_000326.4:c.832C>T NP_000317.1:p.Gln278Ter
ENST00000268125.9:c.832C>T ENSP00000268125.5:p.Gln278Ter
ENST00000563254.1:c.204C>T
XM_011521870.1:c.832C>T XP_011520172.1:p.Gln278Ter
XM_011521870.2:c.832C>T XP_011520172.1:p.Gln278Ter
XM_011521871.1:c.757C>T XP_011520173.1:p.Gln253Ter
XM_011521872.1:c.757C>T XP_011520174.1:p.Gln253Ter
XM_017022460.1:c.859C>T XP_016877949.1:p.Gln287Ter