Canonical Allele Identifier: CA7722234

Gene: RLBP1

Linked Data

• dbSNP Id: rs762889686
• ExAC: 15:89755045 T / C
• gnomAD v2: 15-89755045-T-C
• gnomAD v4: 15-89211814-T-C
• MyVariant Identifiers: chr15:g.89755045T>C (hg19) ; chr15:g.89211814T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89211814T>C , CM000677.2:g.89211814T>C	GRCh38
NC_000015.9:g.89755045T>C , CM000677.1:g.89755045T>C	GRCh37
NC_000015.8:g.87556049T>C	NCBI36
NG_008116.1:g.14878A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.613A>G MANE Select	ENSP00000268125.5:p.Lys205Glu
ENST00000268125.9:c.613A>G	ENSP00000268125.5:p.Lys205Glu
ENST00000563254.1:c.30A>G
ENST00000567787.1:c.*191A>G	ENSP00000457251.1:n.*191A>G
NM_000326.4:c.613A>G	NP_000317.1:p.Lys205Glu
XM_011521870.1:c.613A>G	XP_011520172.1:p.Lys205Glu
XM_011521871.1:c.538A>G	XP_011520173.1:p.Lys180Glu
XM_011521872.1:c.538A>G	XP_011520174.1:p.Lys180Glu
XM_011521870.2:c.613A>G	XP_011520172.1:p.Lys205Glu
XM_017022460.1:c.640A>G	XP_016877949.1:p.Lys214Glu
NM_000326.5:c.613A>G MANE Select	NP_000317.1:p.Lys205Glu