Canonical Allele Identifier: CA116666

Gene: TMPRSS15

Linked Data

• ClinVar Variation Id: 4164
• ClinVar RCV Id: RCV000004381 ; RCV000522000
• dbSNP Id: rs77200626
• ExAC: 21:19685292 G / C
• gnomAD v2: 21-19685292-G-C
• gnomAD v3: 21-18312975-G-C
• gnomAD v4: 21-18312975-G-C
• MyVariant Identifiers: chr21:g.19685292G>C (hg19) ; chr21:g.18312975G>C (hg38)
• PubMed: PMID:1147667 ; PMID:11719902

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.18312975G>C , CM000683.2:g.18312975G>C	GRCh38
NC_000021.8:g.19685292G>C , CM000683.1:g.19685292G>C	GRCh37
NC_000021.7:g.18607163G>C	NCBI36
NG_012207.1:g.95679C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284885.8:c.2135C>G MANE Select	ENSP00000284885.3:p.Ser712Ter
ENST00000284885.7:c.2135C>G	ENSP00000284885.3:p.Ser712Ter
NM_002772.2:c.2135C>G	NP_002763.2:p.Ser712Ter
XM_011529654.1:c.2270C>G	XP_011527956.1:p.Ser757Ter
XM_011529655.1:c.2270C>G	XP_011527957.1:p.Ser757Ter
XM_011529656.1:c.2270C>G	XP_011527958.1:p.Ser757Ter
XM_011529657.1:c.2225C>G	XP_011527959.1:p.Ser742Ter
XM_011529658.1:c.2189C>G	XP_011527960.1:p.Ser730Ter
XM_011529659.1:c.2180C>G	XP_011527961.1:p.Ser727Ter
XM_011529654.2:c.2270C>G	XP_011527956.1:p.Ser757Ter
XM_011529656.2:c.2270C>G	XP_011527958.1:p.Ser757Ter
XM_011529657.2:c.2225C>G	XP_011527959.1:p.Ser742Ter
XM_011529658.2:c.2189C>G	XP_011527960.1:p.Ser730Ter
NM_002772.3:c.2135C>G MANE Select	NP_002763.3:p.Ser712Ter