Canonical Allele Identifier: CA509276

Gene: AGRN

Linked Data

• ClinVar Variation Id: 650420
• ClinVar RCV Id: RCV000805572 ; RCV003892725
• dbSNP Id: rs771823174
• ExAC: 1:983563 G / T
• gnomAD v2: 1-983563-G-T
• gnomAD v3: 1-1048183-G-T
• gnomAD v4: 1-1048183-G-T
• MyVariant Identifiers: chr1:g.983563G>T (hg19) ; chr1:g.1048183G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048183G>T , CM000663.2:g.1048183G>T	GRCh38
NC_000001.10:g.983563G>T , CM000663.1:g.983563G>T	GRCh37
NC_000001.9:g.973426G>T	NCBI36
NG_016346.1:g.33061G>T , LRG_198:g.33061G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3923G>T MANE Select	ENSP00000368678.2:p.Arg1308Leu
ENST00000651234.1:c.3608G>T	ENSP00000499046.1:p.Arg1203Leu
ENST00000652369.1:c.3608G>T	ENSP00000498543.1:p.Arg1203Leu
ENST00000379370.6:c.3923G>T	ENSP00000368678.2:p.Arg1308Leu
ENST00000620552.4:c.3509G>T	ENSP00000484607.1:p.Arg1170Leu
NM_001305275.1:c.3923G>T	NP_001292204.1:p.Arg1308Leu
NM_198576.3:c.3923G>T	NP_940978.2:p.Arg1308Leu
XM_005244749.2:c.3923G>T	XP_005244806.1:p.Arg1308Leu
XM_006710635.2:c.3923G>T	XP_006710698.1:p.Arg1308Leu
XM_011541429.1:c.3923G>T	XP_011539731.1:p.Arg1308Leu
XM_011541430.1:c.3050G>T	XP_011539732.1:p.Arg1017Leu
XM_011541431.1:c.2189G>T	XP_011539733.1:p.Arg730Leu
XR_946650.1:n.3990G>T
NM_001364727.1:c.3608G>T	NP_001351656.1:p.Arg1203Leu
XM_005244749.3:c.3923G>T	XP_005244806.1:p.Arg1308Leu
XM_011541429.2:c.3923G>T	XP_011539731.1:p.Arg1308Leu
XR_946650.2:n.3994G>T
NM_001305275.2:c.3923G>T	NP_001292204.1:p.Arg1308Leu
NM_198576.4:c.3923G>T MANE Select	NP_940978.2:p.Arg1308Leu
NM_001364727.2:c.3608G>T	NP_001351656.1:p.Arg1203Leu