Canonical Allele Identifier: CA2194510183
Community Standard Title: NM_000326.5(RLBP1):c.677T= (p.Met226=)
Gene: RLBP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211750A= , CM000677.2:g.89211750A= GRCh38
NC_000015.9:g.89754981A= , CM000677.1:g.89754981A= GRCh37
NC_000015.8:g.87555985A= NCBI36
NG_008116.1:g.14942T=

Transcript Alleles

HGVS Amino-acid Change
NM_000326.5:c.677T= MANE Select NP_000317.1:p.Met226=
ENST00000268125.10:c.677T= MANE Select ENSP00000268125.5:p.Met226=
NM_000326.4:c.677T= NP_000317.1:p.Met226=
ENST00000268125.9:c.677T= ENSP00000268125.5:p.Met226=
ENST00000563254.1:c.94T=
ENST00000567787.1:c.*255T= ENSP00000457251.1:n.*255T=
XM_011521870.1:c.677T= XP_011520172.1:p.Met226=
XM_011521870.2:c.677T= XP_011520172.1:p.Met226=
XM_011521871.1:c.602T= XP_011520173.1:p.Met201=
XM_011521872.1:c.602T= XP_011520174.1:p.Met201=
XM_017022460.1:c.704T= XP_016877949.1:p.Met235=