Canonical Allele Identifier: CA151645

Gene: AGRN

Linked Data

• ClinVar Variation Id: 128304
• ClinVar RCV Id: RCV000116266 ; RCV000552486 ; RCV001086070
• dbSNP Id: rs139294803
• ExAC: 1:983506 C / T
• gnomAD v2: 1-983506-C-T
• gnomAD v3: 1-1048126-C-T
• gnomAD v4: 1-1048126-C-T
• MyVariant Identifiers: chr1:g.983506C>T (hg19) ; chr1:g.1048126C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048126C>T , CM000663.2:g.1048126C>T	GRCh38
NC_000001.10:g.983506C>T , CM000663.1:g.983506C>T	GRCh37
NC_000001.9:g.973369C>T	NCBI36
NG_016346.1:g.33004C>T , LRG_198:g.33004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379370.7:c.3866C>T MANE Select	ENSP00000368678.2:p.Pro1289Leu
ENST00000651234.1:c.3551C>T	ENSP00000499046.1:p.Pro1184Leu
ENST00000652369.1:c.3551C>T	ENSP00000498543.1:p.Pro1184Leu
ENST00000379370.6:c.3866C>T	ENSP00000368678.2:p.Pro1289Leu
ENST00000620552.4:c.3452C>T	ENSP00000484607.1:p.Pro1151Leu
NM_001305275.1:c.3866C>T	NP_001292204.1:p.Pro1289Leu
NM_198576.3:c.3866C>T	NP_940978.2:p.Pro1289Leu
XM_005244749.2:c.3866C>T	XP_005244806.1:p.Pro1289Leu
XM_006710635.2:c.3866C>T	XP_006710698.1:p.Pro1289Leu
XM_011541429.1:c.3866C>T	XP_011539731.1:p.Pro1289Leu
XM_011541430.1:c.2993C>T	XP_011539732.1:p.Pro998Leu
XM_011541431.1:c.2132C>T	XP_011539733.1:p.Pro711Leu
XR_946650.1:n.3933C>T
NM_001364727.1:c.3551C>T	NP_001351656.1:p.Pro1184Leu
XM_005244749.3:c.3866C>T	XP_005244806.1:p.Pro1289Leu
XM_011541429.2:c.3866C>T	XP_011539731.1:p.Pro1289Leu
XR_946650.2:n.3937C>T
NM_001305275.2:c.3866C>T	NP_001292204.1:p.Pro1289Leu
NM_198576.4:c.3866C>T MANE Select	NP_940978.2:p.Pro1289Leu
NM_001364727.2:c.3551C>T	NP_001351656.1:p.Pro1184Leu