Canonical Allele Identifier: CA362378426
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2752750
ClinVar RCV Id: RCV003566568

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992809C>T , CM000667.2:g.177992809C>T GRCh38
NC_000005.9:g.177419810C>T , CM000667.1:g.177419810C>T GRCh37
NC_000005.8:g.177352416C>T NCBI36
NG_015889.1:g.8434G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.581G>A MANE Select ENSP00000311290.2:p.Trp194Ter
NM_006261.4:c.581G>A NP_006252.3:p.Trp194Ter
NM_006261.5:c.581G>A MANE Select NP_006252.4:p.Trp194Ter