Canonical Allele Identifier: CA362378651

Gene: PROP1

Linked Data

• dbSNP Id: rs1214818111
• gnomAD v3: 5-177992917-G-T
• gnomAD v4: 5-177992917-G-T
• MyVariant Identifiers: chr5:g.177419918G>T (hg19) ; chr5:g.177992917G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992917G>T , CM000667.2:g.177992917G>T	GRCh38
NC_000005.9:g.177419918G>T , CM000667.1:g.177419918G>T	GRCh37
NC_000005.8:g.177352524G>T	NCBI36
NG_015889.1:g.8326C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.473C>A MANE Select	ENSP00000311290.2:p.Ala158Glu
NM_006261.4:c.473C>A	NP_006252.3:p.Ala158Glu
NM_006261.5:c.473C>A MANE Select	NP_006252.4:p.Ala158Glu