Canonical Allele Identifier: CA393729227
Gene: RLBP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89211858T>G , CM000677.2:g.89211858T>G GRCh38
NC_000015.9:g.89755089T>G , CM000677.1:g.89755089T>G GRCh37
NC_000015.8:g.87556093T>G NCBI36
NG_008116.1:g.14834A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000268125.10:c.569A>C MANE Select ENSP00000268125.5:p.Asn190Thr
ENST00000268125.9:c.569A>C ENSP00000268125.5:p.Asn190Thr
ENST00000567787.1:c.*147A>C ENSP00000457251.1:n.*147A>C
NM_000326.4:c.569A>C NP_000317.1:p.Asn190Thr
XM_011521870.1:c.569A>C XP_011520172.1:p.Asn190Thr
XM_011521871.1:c.494A>C XP_011520173.1:p.Asn165Thr
XM_011521872.1:c.494A>C XP_011520174.1:p.Asn165Thr
XM_011521870.2:c.569A>C XP_011520172.1:p.Asn190Thr
XM_017022460.1:c.596A>C XP_016877949.1:p.Asn199Thr
NM_000326.5:c.569A>C MANE Select NP_000317.1:p.Asn190Thr