Canonical Allele Identifier: CA5466239

Gene: NRP1

Linked Data

• ClinVar Variation Id: 3055728
• ClinVar RCV Id: RCV003972184
• dbSNP Id: rs2228638
• ExAC: 10:33475282 C / T
• gnomAD v2: 10-33475282-C-T
• gnomAD v3: 10-33186354-C-T
• gnomAD v4: 10-33186354-C-T
• MyVariant Identifiers: chr10:g.33475282C>T (hg19) ; chr10:g.33186354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.33186354C>T , CM000672.2:g.33186354C>T	GRCh38
NC_000010.10:g.33475282C>T , CM000672.1:g.33475282C>T	GRCh37
NC_000010.9:g.33515288C>T	NCBI36
NG_030328.1:g.153552G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374867.7:c.2197G>A MANE Select	ENSP00000364001.2:p.Val733Ile
ENST00000265371.8:c.2197G>A	ENSP00000265371.3:p.Val733Ile
ENST00000374867.6:c.2197G>A	ENSP00000364001.2:p.Val733Ile
ENST00000374875.5:c.1633G>A	ENSP00000364009.1:p.Val545Ile
ENST00000395995.5:c.2197G>A	ENSP00000379317.1:p.Val733Ile
NM_001244972.1:c.2179G>A	NP_001231901.1:p.Val727Ile
NM_001244973.1:c.2176G>A	NP_001231902.1:p.Val726Ile
NM_003873.5:c.2197G>A	NP_003864.4:p.Val733Ile
NR_045259.1:n.2517G>A
XM_006717521.1:c.2200G>A	XP_006717584.1:p.Val734Ile
XM_006717522.1:c.2200G>A	XP_006717585.1:p.Val734Ile
XM_006717523.1:c.2197G>A	XP_006717586.1:p.Val733Ile
XM_006717524.1:c.2095G>A	XP_006717587.1:p.Val699Ile
XM_006717525.1:c.2092G>A	XP_006717588.1:p.Val698Ile
NM_001330068.1:c.2197G>A	NP_001316997.1:p.Val733Ile
XM_006717521.2:c.2200G>A	XP_006717584.1:p.Val734Ile
XM_006717522.2:c.2200G>A	XP_006717585.1:p.Val734Ile
XM_006717524.2:c.2095G>A	XP_006717587.1:p.Val699Ile
XM_006717525.2:c.2092G>A	XP_006717588.1:p.Val698Ile
XM_017016865.2:c.2176G>A	XP_016872354.1:p.Val726Ile
XM_017016866.2:c.1654G>A	XP_016872355.1:p.Val552Ile
NM_003873.6:c.2197G>A	NP_003864.4:p.Val733Ile
NM_001244972.2:c.2179G>A	NP_001231901.2:p.Val727Ile
NM_001244973.2:c.2176G>A	NP_001231902.2:p.Val726Ile
NM_001330068.2:c.2197G>A	NP_001316997.2:p.Val733Ile
NM_003873.7:c.2197G>A MANE Select	NP_003864.5:p.Val733Ile
NR_045259.2:n.2279G>A