Canonical Allele Identifier: CA16041006

Gene: PROP1

Linked Data

• ClinVar Variation Id: 370889
• ClinVar RCV Id: RCV000410070 ; RCV003736753
• dbSNP Id: rs1057516846
• gnomAD v3: 5-177994340-T-C
• gnomAD v4: 5-177994340-T-C
• MyVariant Identifiers: chr5:g.177421341T>C (hg19) ; chr5:g.177994340T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.177994340T>C , CM000667.2:g.177994340T>C	GRCh38
NC_000005.9:g.177421341T>C , CM000667.1:g.177421341T>C	GRCh37
NC_000005.8:g.177353947T>C	NCBI36
NG_015889.1:g.6903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308304.2:c.110-2A>G MANE Select	ENSP00000311290.2:n.110-2A>G
NM_006261.4:c.110-2A>G	NP_006252.3:n.110-2A>G
NM_006261.5:c.110-2A>G MANE Select	NP_006252.4:n.110-2A>G