Canonical Allele Identifier: CA393729005

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89754993T>A (hg19) ; chr15:g.89211762T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211762T>A , CM000677.2:g.89211762T>A	GRCh38
NC_000015.9:g.89754993T>A , CM000677.1:g.89754993T>A	GRCh37
NC_000015.8:g.87555997T>A	NCBI36
NG_008116.1:g.14930A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.665A>T MANE Select	ENSP00000268125.5:p.Lys222Met
ENST00000268125.9:c.665A>T	ENSP00000268125.5:p.Lys222Met
ENST00000563254.1:c.82A>T
ENST00000567787.1:c.*243A>T	ENSP00000457251.1:n.*243A>T
NM_000326.4:c.665A>T	NP_000317.1:p.Lys222Met
XM_011521870.1:c.665A>T	XP_011520172.1:p.Lys222Met
XM_011521871.1:c.590A>T	XP_011520173.1:p.Lys197Met
XM_011521872.1:c.590A>T	XP_011520174.1:p.Lys197Met
XM_011521870.2:c.665A>T	XP_011520172.1:p.Lys222Met
XM_017022460.1:c.692A>T	XP_016877949.1:p.Lys231Met
NM_000326.5:c.665A>T MANE Select	NP_000317.1:p.Lys222Met