Canonical Allele Identifier: CA201718426
Gene: TPRN HGNC NCBI
MyVariant.info:
GRCh38 chr9:g.137194178G>A
GRCh37 chr9:g.140088630G>A
gnomAD v2:
9:140088630 G / A
gnomAD v3:
9:137194178 G / A
gnomAD v4:
chr9-137194178-G-A
Joint Max Group AF 0.29999648 (AFR)
Genomes Max Group AF 0.29996773 (AFR)
Exomes Max Group AF 0.13628107 (AFR)
dbSNP:
28417902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.137194178G>A , CM000671.2:g.137194178G>A GRCh38
NC_000009.11:g.140088630G>A , CM000671.1:g.140088630G>A GRCh37
NC_000009.10:g.139208451G>A NCBI36
NG_027801.1:g.11534C>T
NG_027801.2:g.15016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000409012.6:c.1726-1487C>T MANE Select ENSP00000387100.4:n.1726-1487C>T
ENST00000333046.8:c.1120-1487C>T ENSP00000327617.4:n.1120-1487C>T
ENST00000409012.4:c.1726-1487C>T ENSP00000387100.4:n.1726-1487C>T
ENST00000477345.1:n.960C>T
ENST00000541945.1:n.91-1487C>T
NM_001128228.2:c.1726-1487C>T NP_001121700.2:n.1726-1487C>T
NM_001128228.3:c.1726-1487C>T MANE Select NP_001121700.2:n.1726-1487C>T
Search 100 bp 5'
Search 100 bp 3'