Canonical Allele Identifier: CA202375

Gene: PROP1

Linked Data

• ClinVar Variation Id: 196434
• ClinVar RCV Id: RCV000177255 ; RCV000331489 ; RCV000712863
• dbSNP Id: rs1800197
• ExAC: 5:177419967 C / T
• gnomAD v2: 5-177419967-C-T
• gnomAD v3: 5-177992966-C-T
• gnomAD v4: 5-177992966-C-T
• MyVariant Identifiers: chr5:g.177419967C>T (hg19) ; chr5:g.177992966C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992966C>T , CM000667.2:g.177992966C>T	GRCh38
NC_000005.9:g.177419967C>T , CM000667.1:g.177419967C>T	GRCh37
NC_000005.8:g.177352573C>T	NCBI36
NG_015889.1:g.8277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.424G>A MANE Select	ENSP00000311290.2:p.Ala142Thr
NM_006261.4:c.424G>A	NP_006252.3:p.Ala142Thr
NM_006261.5:c.424G>A MANE Select	NP_006252.4:p.Ala142Thr