Canonical Allele Identifier: CA7722324
Community Standard Title: NM_000326.5(RLBP1):c.333T>G (p.Tyr111Ter)
Gene: RLBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89217133A>C , CM000677.2:g.89217133A>C GRCh38
NC_000015.9:g.89760364A>C , CM000677.1:g.89760364A>C GRCh37
NC_000015.8:g.87561368A>C NCBI36
NG_008116.1:g.9559T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000326.5:c.333T>G MANE Select NP_000317.1:p.Tyr111Ter
ENST00000268125.10:c.333T>G MANE Select ENSP00000268125.5:p.Tyr111Ter
NM_000326.4:c.333T>G NP_000317.1:p.Tyr111Ter
ENST00000268125.9:c.333T>G ENSP00000268125.5:p.Tyr111Ter
ENST00000567787.1:c.183+150T>G ENSP00000457251.1:n.183+150T>G
XM_011521870.1:c.333T>G XP_011520172.1:p.Tyr111Ter
XM_011521870.2:c.333T>G XP_011520172.1:p.Tyr111Ter
XM_011521871.1:c.258T>G XP_011520173.1:p.Tyr86Ter
XM_011521872.1:c.258T>G XP_011520174.1:p.Tyr86Ter
XM_017022460.1:c.360T>G XP_016877949.1:p.Tyr120Ter