Canonical Allele Identifier: CA448355352
Gene: PROP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2769425
ClinVar RCV Id: RCV003578731
MyVariant Identifiers: chr5:g.177419995A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992994A>G , CM000667.2:g.177992994A>G GRCh38
NC_000005.9:g.177419995A>G , CM000667.1:g.177419995A>G GRCh37
NC_000005.8:g.177352601A>G NCBI36
NG_015889.1:g.8249T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.396T>C MANE Select ENSP00000311290.2:p.Leu132=
NM_006261.4:c.396T>C NP_006252.3:p.Leu132=
NM_006261.5:c.396T>C MANE Select NP_006252.4:p.Leu132=