Canonical Allele Identifier: CA362378715

Gene: PROP1

Linked Data

• dbSNP Id: rs1367651545
• gnomAD v3: 5-177992947-G-A
• gnomAD v4: 5-177992947-G-A
• MyVariant Identifiers: chr5:g.177419948G>A (hg19) ; chr5:g.177992947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992947G>A , CM000667.2:g.177992947G>A	GRCh38
NC_000005.9:g.177419948G>A , CM000667.1:g.177419948G>A	GRCh37
NC_000005.8:g.177352554G>A	NCBI36
NG_015889.1:g.8296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.443C>T MANE Select	ENSP00000311290.2:p.Pro148Leu
NM_006261.4:c.443C>T	NP_006252.3:p.Pro148Leu
NM_006261.5:c.443C>T MANE Select	NP_006252.4:p.Pro148Leu