Canonical Allele Identifier: CA409832879

Gene: NRIP1

Linked Data

• dbSNP Id: rs2146942735
• gnomAD v3: 21-14968018-G-A
• gnomAD v4: 21-14968018-G-A
• COSMIC: COSM5936672
• MyVariant Identifiers: chr21:g.16340339G>A (hg19) ; chr21:g.14968018G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.14968018G>A , CM000683.2:g.14968018G>A	GRCh38
NC_000021.8:g.16340339G>A , CM000683.1:g.16340339G>A	GRCh37
NC_000021.7:g.15262210G>A	NCBI36
NG_050643.1:g.102886C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318948.7:c.175C>T MANE Select	ENSP00000327213.4:p.Pro59Ser
ENST00000318948.6:c.175C>T	ENSP00000327213.4:p.Pro59Ser
ENST00000400199.5:c.175C>T	ENSP00000383060.1:p.Pro59Ser
ENST00000400202.5:c.175C>T	ENSP00000383063.1:p.Pro59Ser
ENST00000411932.1:c.175C>T	ENSP00000412114.1:p.Pro59Ser
NM_003489.3:c.175C>T	NP_003480.2:p.Pro59Ser
XM_005261063.2:c.175C>T	XP_005261120.1:p.Pro59Ser
XM_005261065.2:c.175C>T	XP_005261122.1:p.Pro59Ser
XM_011529747.1:c.175C>T	XP_011528049.1:p.Pro59Ser
XM_011529748.1:c.175C>T	XP_011528050.1:p.Pro59Ser
XM_011529749.1:c.175C>T	XP_011528051.1:p.Pro59Ser
XM_011529750.1:c.175C>T	XP_011528052.1:p.Pro59Ser
XM_011529751.1:c.175C>T	XP_011528053.1:p.Pro59Ser
XM_011529752.1:c.175C>T	XP_011528054.1:p.Pro59Ser
XM_005261063.3:c.175C>T	XP_005261120.1:p.Pro59Ser
XM_005261065.3:c.175C>T	XP_005261122.1:p.Pro59Ser
XM_011529748.2:c.175C>T	XP_011528050.1:p.Pro59Ser
XM_011529749.2:c.175C>T	XP_011528051.1:p.Pro59Ser
XM_011529751.2:c.175C>T	XP_011528053.1:p.Pro59Ser
XM_017028473.1:c.175C>T	XP_016883962.1:p.Pro59Ser
XM_017028474.1:c.175C>T	XP_016883963.1:p.Pro59Ser
XM_017028475.1:c.175C>T	XP_016883964.1:p.Pro59Ser
XM_017028476.1:c.175C>T	XP_016883965.1:p.Pro59Ser
NM_003489.4:c.175C>T MANE Select	NP_003480.2:p.Pro59Ser