Canonical Allele Identifier: CA3587633

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353015
• ClinVar RCV Id: RCV000286211 ; RCV003736744
• dbSNP Id: rs759210335
• ExAC: 5:177422813 G / A
• gnomAD v2: 5-177422813-G-A
• gnomAD v3: 5-177995812-G-A
• gnomAD v4: 5-177995812-G-A
• MyVariant Identifiers: chr5:g.177422813G>A (hg19) ; chr5:g.177995812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177995812G>A , CM000667.2:g.177995812G>A	GRCh38
NC_000005.9:g.177422813G>A , CM000667.1:g.177422813G>A	GRCh37
NC_000005.8:g.177355419G>A	NCBI36
NG_015889.1:g.5431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.109+13C>T MANE Select	ENSP00000311290.2:n.109+13C>T
NM_006261.4:c.109+13C>T	NP_006252.3:n.109+13C>T
NM_006261.5:c.109+13C>T MANE Select	NP_006252.4:n.109+13C>T