Canonical Allele Identifier: CA178314

Gene: TPRN

Linked Data

• ClinVar Variation Id: 165576
• ClinVar RCV Id: RCV000152125 ; RCV000477803
• dbSNP Id: rs727503520
• ExAC: 9:140086727 G / A
• gnomAD v2: 9-140086727-G-A
• gnomAD v3: 9-137192275-G-A
• gnomAD v4: 9-137192275-G-A
• MyVariant Identifiers: chr9:g.140086727G>A (hg19) ; chr9:g.137192275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137192275G>A , CM000671.2:g.137192275G>A	GRCh38
NC_000009.11:g.140086727G>A , CM000671.1:g.140086727G>A	GRCh37
NC_000009.10:g.139206548G>A	NCBI36
NG_027801.1:g.13437C>T
NG_027801.2:g.16919C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000409012.6:c.2057C>T MANE Select	ENSP00000387100.4:p.Pro686Leu
ENST00000333046.8:c.1451C>T	ENSP00000327617.4:p.Pro484Leu
ENST00000409012.4:c.2057C>T	ENSP00000387100.4:p.Pro686Leu
ENST00000477345.1:n.2778C>T
NM_001128228.2:c.2057C>T	NP_001121700.2:p.Pro686Leu
NM_001128228.3:c.2057C>T MANE Select	NP_001121700.2:p.Pro686Leu