Canonical Allele Identifier: CA393729043

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89755011C>A (hg19) ; chr15:g.89211780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211780C>A , CM000677.2:g.89211780C>A	GRCh38
NC_000015.9:g.89755011C>A , CM000677.1:g.89755011C>A	GRCh37
NC_000015.8:g.87556015C>A	NCBI36
NG_008116.1:g.14912G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000268125.10:c.647G>T MANE Select	ENSP00000268125.5:p.Arg216Leu
ENST00000268125.9:c.647G>T	ENSP00000268125.5:p.Arg216Leu
ENST00000563254.1:c.64G>T
ENST00000567787.1:c.*225G>T	ENSP00000457251.1:n.*225G>T
NM_000326.4:c.647G>T	NP_000317.1:p.Arg216Leu
XM_011521870.1:c.647G>T	XP_011520172.1:p.Arg216Leu
XM_011521871.1:c.572G>T	XP_011520173.1:p.Arg191Leu
XM_011521872.1:c.572G>T	XP_011520174.1:p.Arg191Leu
XM_011521870.2:c.647G>T	XP_011520172.1:p.Arg216Leu
XM_017022460.1:c.674G>T	XP_016877949.1:p.Arg225Leu
NM_000326.5:c.647G>T MANE Select	NP_000317.1:p.Arg216Leu