Canonical Allele Identifier: CA362378837

Gene: PROP1

Linked Data

• dbSNP Id: rs1185646068
• gnomAD v2: 5-177420008-T-C
• gnomAD v4: 5-177993007-T-C
• MyVariant Identifiers: chr5:g.177420008T>C (hg19) ; chr5:g.177993007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177993007T>C , CM000667.2:g.177993007T>C	GRCh38
NC_000005.9:g.177420008T>C , CM000667.1:g.177420008T>C	GRCh37
NC_000005.8:g.177352614T>C	NCBI36
NG_015889.1:g.8236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.383A>G MANE Select	ENSP00000311290.2:p.Glu128Gly
NM_006261.4:c.383A>G	NP_006252.3:p.Glu128Gly
NM_006261.5:c.383A>G MANE Select	NP_006252.4:p.Glu128Gly