Canonical Allele Identifier: CA7722242

Gene: RLBP1

Linked Data

• dbSNP Id: rs754340979
• ExAC: 15:89755106 C / T
• gnomAD v2: 15-89755106-C-T
• gnomAD v4: 15-89211875-C-T
• MyVariant Identifiers: chr15:g.89755106C>T (hg19) ; chr15:g.89211875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211875C>T , CM000677.2:g.89211875C>T	GRCh38
NC_000015.9:g.89755106C>T , CM000677.1:g.89755106C>T	GRCh37
NC_000015.8:g.87556110C>T	NCBI36
NG_008116.1:g.14817G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.552G>A MANE Select	ENSP00000268125.5:p.Leu184=
ENST00000268125.9:c.552G>A	ENSP00000268125.5:p.Leu184=
ENST00000567787.1:c.*130G>A	ENSP00000457251.1:n.*130G>A
NM_000326.4:c.552G>A	NP_000317.1:p.Leu184=
XM_011521870.1:c.552G>A	XP_011520172.1:p.Leu184=
XM_011521871.1:c.477G>A	XP_011520173.1:p.Leu159=
XM_011521872.1:c.477G>A	XP_011520174.1:p.Leu159=
XM_011521870.2:c.552G>A	XP_011520172.1:p.Leu184=
XM_017022460.1:c.579G>A	XP_016877949.1:p.Leu193=
NM_000326.5:c.552G>A MANE Select	NP_000317.1:p.Leu184=