Canonical Allele Identifier: CA180516

Gene: TM9SF5P GPR101

Linked Data

• ClinVar Variation Id: 167871
• ClinVar RCV Id: RCV000154187 ; RCV000887712 ; RCV003927490
• dbSNP Id: rs73637412
• ExAC: X:136112910 C / G
• gnomAD v2: X-136112910-C-G
• gnomAD v3: X-137030751-C-G
• gnomAD v4: X-137030751-C-G
• COSMIC: COSM4594341
• MyVariant Identifiers: chrX:g.136112910C>G (hg19) ; chrX:g.137030751C>G (hg38)
• PubMed: PMID:25470569 ; PMID:25806919 ; PMID:25806921 ; PMID:26792934 ; PMID:26815903 ; PMID:27245663 ; PMID:27301361 ; PMID:27498687 ; PMID:29389097

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.137030751C>G , CM000685.2:g.137030751C>G	GRCh38
NC_000023.10:g.136112910C>G , CM000685.1:g.136112910C>G	GRCh37
NC_000023.9:g.135940576C>G	NCBI36
NG_016367.1:g.5924G>C
NG_016367.2:g.8245G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000693626.1:n.358-29774C>G (TM9SF5P)
ENST00000651716.2:c.924G>C (GPR101) MANE Select	ENSP00000498972.1:p.Glu308Asp
ENST00000298110.1:c.924G>C (GPR101)	ENSP00000298110.1:p.Glu308Asp
NM_054021.1:c.924G>C (GPR101)	NP_473362.1:p.Glu308Asp
NM_054021.2:c.924G>C (GPR101) MANE Select	NP_473362.1:p.Glu308Asp