Canonical Allele Identifier: CA808117116

Gene: PROP1

Linked Data

• dbSNP Id: rs1322693707
• gnomAD v3: 5-177992621-C-A
• gnomAD v4: 5-177992621-C-A
• MyVariant Identifiers: chr5:g.177419622C>A (hg19) ; chr5:g.177992621C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992621C>A , CM000667.2:g.177992621C>A	GRCh38
NC_000005.9:g.177419622C>A , CM000667.1:g.177419622C>A	GRCh37
NC_000005.8:g.177352228C>A	NCBI36
NG_015889.1:g.8622G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.*88G>T MANE Select	ENSP00000311290.2:n.*88G>T
NM_006261.4:c.*88G>T	NP_006252.3:n.*88G>T
NM_006261.5:c.*88G>T MANE Select	NP_006252.4:n.*88G>T