Canonical Allele Identifier: CA3587492

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353013
• ClinVar RCV Id: RCV000314123 ; RCV001393640
• dbSNP Id: rs765098843
• ExAC: 5:177419773 C / T
• gnomAD v2: 5-177419773-C-T
• gnomAD v3: 5-177992772-C-T
• gnomAD v4: 5-177992772-C-T
• MyVariant Identifiers: chr5:g.177419773C>T (hg19) ; chr5:g.177992772C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177992772C>T , CM000667.2:g.177992772C>T	GRCh38
NC_000005.9:g.177419773C>T , CM000667.1:g.177419773C>T	GRCh37
NC_000005.8:g.177352379C>T	NCBI36
NG_015889.1:g.8471G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.618G>A MANE Select	ENSP00000311290.2:p.Leu206=
NM_006261.4:c.618G>A	NP_006252.3:p.Leu206=
NM_006261.5:c.618G>A MANE Select	NP_006252.4:p.Leu206=