Canonical Allele Identifier: CA3587553

Gene: PROP1

Linked Data

• ClinVar Variation Id: 353014
• ClinVar RCV Id: RCV000383699 ; RCV001764316
• dbSNP Id: rs201266211
• ExAC: 5:177421114 C / T
• gnomAD v2: 5-177421114-C-T
• gnomAD v3: 5-177994113-C-T
• gnomAD v4: 5-177994113-C-T
• COSMIC: COSM1739158
• MyVariant Identifiers: chr5:g.177421114C>T (hg19) ; chr5:g.177994113C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994113C>T , CM000667.2:g.177994113C>T	GRCh38
NC_000005.9:g.177421114C>T , CM000667.1:g.177421114C>T	GRCh37
NC_000005.8:g.177353720C>T	NCBI36
NG_015889.1:g.7130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.335G>A MANE Select	ENSP00000311290.2:p.Arg112Gln
NM_006261.4:c.335G>A	NP_006252.3:p.Arg112Gln
NM_006261.5:c.335G>A MANE Select	NP_006252.4:p.Arg112Gln