Canonical Allele Identifier: CA5362767

Gene: TPRN

Linked Data

• dbSNP Id: rs375074046
• ExAC: 9:140093827 C / T
• gnomAD v2: 9-140093827-C-T
• gnomAD v3: 9-137199375-C-T
• gnomAD v4: 9-137199375-C-T
• MyVariant Identifiers: chr9:g.140093827C>T (hg19) ; chr9:g.137199375C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.137199375C>T , CM000671.2:g.137199375C>T	GRCh38
NC_000009.11:g.140093827C>T , CM000671.1:g.140093827C>T	GRCh37
NC_000009.10:g.139213648C>T	NCBI36
NG_027801.1:g.6337G>A
NG_027801.2:g.9819G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000409012.6:c.1337G>A MANE Select	ENSP00000387100.4:p.Arg446Gln
ENST00000333046.8:c.731G>A	ENSP00000327617.4:p.Arg244Gln
ENST00000409012.4:c.1337G>A	ENSP00000387100.4:p.Arg446Gln
ENST00000541945.1:n.90+4729G>A
NM_001128228.2:c.1337G>A	NP_001121700.2:p.Arg446Gln
NM_001128228.3:c.1337G>A MANE Select	NP_001121700.2:p.Arg446Gln