Canonical Allele Identifier: CA337851192

Gene: AGRN

Linked Data

• gnomAD v4: 1-1047784-T-C
• MyVariant Identifiers: chr1:g.983164T>C (hg19) ; chr1:g.1047784T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047784T>C , CM000663.2:g.1047784T>C	GRCh38
NC_000001.10:g.983164T>C , CM000663.1:g.983164T>C	GRCh37
NC_000001.9:g.973027T>C	NCBI36
NG_016346.1:g.32662T>C , LRG_198:g.32662T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3640T>C MANE Select	ENSP00000368678.2:p.Phe1214Leu
ENST00000651234.1:c.3325T>C	ENSP00000499046.1:p.Phe1109Leu
ENST00000652369.1:c.3325T>C	ENSP00000498543.1:p.Phe1109Leu
ENST00000379370.6:c.3640T>C	ENSP00000368678.2:p.Phe1214Leu
ENST00000466223.1:n.378T>C
ENST00000478677.1:n.222T>C
ENST00000620552.4:c.3226T>C	ENSP00000484607.1:p.Phe1076Leu
NM_001305275.1:c.3640T>C	NP_001292204.1:p.Phe1214Leu
NM_198576.3:c.3640T>C	NP_940978.2:p.Phe1214Leu
XM_005244749.2:c.3640T>C	XP_005244806.1:p.Phe1214Leu
XM_006710635.2:c.3640T>C	XP_006710698.1:p.Phe1214Leu
XM_011541429.1:c.3640T>C	XP_011539731.1:p.Phe1214Leu
XM_011541430.1:c.2767T>C	XP_011539732.1:p.Phe923Leu
XM_011541431.1:c.1906T>C	XP_011539733.1:p.Phe636Leu
XR_946650.1:n.3707T>C
NM_001364727.1:c.3325T>C	NP_001351656.1:p.Phe1109Leu
XM_005244749.3:c.3640T>C	XP_005244806.1:p.Phe1214Leu
XM_011541429.2:c.3640T>C	XP_011539731.1:p.Phe1214Leu
XR_946650.2:n.3711T>C
NM_001305275.2:c.3640T>C	NP_001292204.1:p.Phe1214Leu
NM_198576.4:c.3640T>C MANE Select	NP_940978.2:p.Phe1214Leu
NM_001364727.2:c.3325T>C	NP_001351656.1:p.Phe1109Leu