Canonical Allele Identifier: CA3587479
Gene: PROP1 HGNC NCBI

Linked Data

dbSNP Id: rs771561181
ExAC: 5:177419736 G / A
gnomAD v2: 5-177419736-G-A
gnomAD v4: 5-177992735-G-A
MyVariant Identifiers: chr5:g.177419736G>A (hg19) chr5:g.177992735G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.177992735G>A , CM000667.2:g.177992735G>A GRCh38
NC_000005.9:g.177419736G>A , CM000667.1:g.177419736G>A GRCh37
NC_000005.8:g.177352342G>A NCBI36
NG_015889.1:g.8508C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000308304.2:c.655C>T MANE Select ENSP00000311290.2:p.Leu219Phe
NM_006261.4:c.655C>T NP_006252.3:p.Leu219Phe
NM_006261.5:c.655C>T MANE Select NP_006252.4:p.Leu219Phe
Search 100 bp 5'
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