Canonical Allele Identifier: CA10647443

Gene: RLBP1

Linked Data

• ClinVar Variation Id: 317229
• ClinVar RCV Id: RCV000286615 ; RCV000335898 ; RCV000395058 ; RCV001660657
• dbSNP Id: rs8025719
• gnomAD v2: 15-89753274-T-G
• gnomAD v3: 15-89210043-T-G
• gnomAD v4: 15-89210043-T-G
• MyVariant Identifiers: chr15:g.89753274T>G (hg19) ; chr15:g.89210043T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89210043T>G , CM000677.2:g.89210043T>G	GRCh38
NC_000015.9:g.89753274T>G , CM000677.1:g.89753274T>G	GRCh37
NC_000015.8:g.87554278T>G	NCBI36
NG_008116.1:g.16649A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268125.10:c.*242A>C MANE Select	ENSP00000268125.5:n.*242A>C
ENST00000268125.9:c.*242A>C	ENSP00000268125.5:n.*242A>C
ENST00000563254.1:c.568A>C
NM_000326.4:c.*242A>C	NP_000317.1:n.*242A>C
XM_011521870.1:c.*242A>C	XP_011520172.1:n.*242A>C
XM_011521871.1:c.*242A>C	XP_011520173.1:n.*242A>C
XM_011521872.1:c.*242A>C	XP_011520174.1:n.*242A>C
XM_011521870.2:c.*242A>C	XP_011520172.1:n.*242A>C
XM_017022460.1:c.*242A>C	XP_016877949.1:n.*242A>C
NM_000326.5:c.*242A>C MANE Select	NP_000317.1:n.*242A>C