Canonical Allele Identifier: CA3587516
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2195372
ClinVar RCV Id: RCV002647662
dbSNP Id: rs751075306
ExAC: 5:177419903 G / T
gnomAD v2: 5-177419903-G-T
gnomAD v3: 5-177992902-G-T
gnomAD v4: 5-177992902-G-T
MyVariant Identifiers: chr5:g.177419903G>T (hg19) chr5:g.177992902G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992902G>T , CM000667.2:g.177992902G>T GRCh38
NC_000005.9:g.177419903G>T , CM000667.1:g.177419903G>T GRCh37
NC_000005.8:g.177352509G>T NCBI36
NG_015889.1:g.8341C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.488C>A MANE Select ENSP00000311290.2:p.Pro163Gln
NM_006261.4:c.488C>A NP_006252.3:p.Pro163Gln
NM_006261.5:c.488C>A MANE Select NP_006252.4:p.Pro163Gln
Search 100 bp 5'
Search 100 bp 3'