Canonical Allele Identifier: CA393729566

Gene: RLBP1

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89215080G>A , CM000677.2:g.89215080G>A	GRCh38
NC_000015.9:g.89758311G>A , CM000677.1:g.89758311G>A	GRCh37
NC_000015.8:g.87559315G>A	NCBI36
NG_008116.1:g.11612C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000326.5:c.505C>T MANE Select	NP_000317.1:p.Gln169Ter
ENST00000268125.10:c.505C>T MANE Select	ENSP00000268125.5:p.Gln169Ter
NM_000326.4:c.505C>T	NP_000317.1:p.Gln169Ter
ENST00000268125.9:c.505C>T	ENSP00000268125.5:p.Gln169Ter
ENST00000567787.1:c.*83C>T	ENSP00000457251.1:n.*83C>T
XM_011521870.1:c.505C>T	XP_011520172.1:p.Gln169Ter
XM_011521870.2:c.505C>T	XP_011520172.1:p.Gln169Ter
XM_011521871.1:c.430C>T	XP_011520173.1:p.Gln144Ter
XM_011521872.1:c.430C>T	XP_011520174.1:p.Gln144Ter
XM_017022460.1:c.532C>T	XP_016877949.1:p.Gln178Ter