Canonical Allele Identifier: CA393728969

Gene: RLBP1

Linked Data

• MyVariant Identifiers: chr15:g.89754979G>T (hg19) ; chr15:g.89211748G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211748G>T , CM000677.2:g.89211748G>T	GRCh38
NC_000015.9:g.89754979G>T , CM000677.1:g.89754979G>T	GRCh37
NC_000015.8:g.87555983G>T	NCBI36
NG_008116.1:g.14944C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.679C>A MANE Select	ENSP00000268125.5:p.Leu227Ile
ENST00000268125.9:c.679C>A	ENSP00000268125.5:p.Leu227Ile
ENST00000563254.1:c.96C>A
ENST00000567787.1:c.*257C>A	ENSP00000457251.1:n.*257C>A
NM_000326.4:c.679C>A	NP_000317.1:p.Leu227Ile
XM_011521870.1:c.679C>A	XP_011520172.1:p.Leu227Ile
XM_011521871.1:c.604C>A	XP_011520173.1:p.Leu202Ile
XM_011521872.1:c.604C>A	XP_011520174.1:p.Leu202Ile
XM_011521870.2:c.679C>A	XP_011520172.1:p.Leu227Ile
XM_017022460.1:c.706C>A	XP_016877949.1:p.Leu236Ile
NM_000326.5:c.679C>A MANE Select	NP_000317.1:p.Leu227Ile