Canonical Allele Identifier: CA362378630

Gene: PROP1

Linked Data

• dbSNP Id: rs754505852
• gnomAD v2: 5-177419906-G-T
• gnomAD v4: 5-177992905-G-T
• MyVariant Identifiers: chr5:g.177419906G>T (hg19) ; chr5:g.177992905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992905G>T , CM000667.2:g.177992905G>T	GRCh38
NC_000005.9:g.177419906G>T , CM000667.1:g.177419906G>T	GRCh37
NC_000005.8:g.177352512G>T	NCBI36
NG_015889.1:g.8338C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.485C>A MANE Select	ENSP00000311290.2:p.Pro162Gln
NM_006261.4:c.485C>A	NP_006252.3:p.Pro162Gln
NM_006261.5:c.485C>A MANE Select	NP_006252.4:p.Pro162Gln