Canonical Allele Identifier: CA388037266

Gene: THSD1

Linked Data

• dbSNP Id: rs1788298474
• gnomAD v4: 13-52397588-A-G
• MyVariant Identifiers: chr13:g.52971723A>G (hg19) ; chr13:g.52397588A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.52397588A>G , CM000675.2:g.52397588A>G	GRCh38
NC_000013.10:g.52971723A>G , CM000675.1:g.52971723A>G	GRCh37
NC_000013.9:g.51869724A>G	NCBI36
NG_047168.1:g.13907T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258613.5:c.665T>C MANE Select	ENSP00000258613.4:p.Leu222Pro
ENST00000648254.1:c.665T>C	ENSP00000497520.1:p.Leu222Pro
ENST00000258613.4:c.665T>C	ENSP00000258613.4:p.Leu222Pro
ENST00000349258.8:c.665T>C	ENSP00000340650.4:p.Leu222Pro
NM_018676.3:c.665T>C	NP_061146.1:p.Leu222Pro
NM_199263.2:c.665T>C	NP_954872.1:p.Leu222Pro
NM_018676.4:c.665T>C MANE Select	NP_061146.1:p.Leu222Pro
NM_199263.3:c.665T>C	NP_954872.1:p.Leu222Pro