Canonical Allele Identifier: CA337851939

Gene: AGRN

Linked Data

• gnomAD v4: 1-1047888-G-T
• MyVariant Identifiers: chr1:g.983268G>T (hg19) ; chr1:g.1047888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047888G>T , CM000663.2:g.1047888G>T	GRCh38
NC_000001.10:g.983268G>T , CM000663.1:g.983268G>T	GRCh37
NC_000001.9:g.973131G>T	NCBI36
NG_016346.1:g.32766G>T , LRG_198:g.32766G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3744G>T MANE Select	ENSP00000368678.2:p.Met1248Ile
ENST00000651234.1:c.3429G>T	ENSP00000499046.1:p.Met1143Ile
ENST00000652369.1:c.3429G>T	ENSP00000498543.1:p.Met1143Ile
ENST00000379370.6:c.3744G>T	ENSP00000368678.2:p.Met1248Ile
ENST00000620552.4:c.3330G>T	ENSP00000484607.1:p.Met1110Ile
NM_001305275.1:c.3744G>T	NP_001292204.1:p.Met1248Ile
NM_198576.3:c.3744G>T	NP_940978.2:p.Met1248Ile
XM_005244749.2:c.3744G>T	XP_005244806.1:p.Met1248Ile
XM_006710635.2:c.3744G>T	XP_006710698.1:p.Met1248Ile
XM_011541429.1:c.3744G>T	XP_011539731.1:p.Met1248Ile
XM_011541430.1:c.2871G>T	XP_011539732.1:p.Met957Ile
XM_011541431.1:c.2010G>T	XP_011539733.1:p.Met670Ile
XR_946650.1:n.3811G>T
NM_001364727.1:c.3429G>T	NP_001351656.1:p.Met1143Ile
XM_005244749.3:c.3744G>T	XP_005244806.1:p.Met1248Ile
XM_011541429.2:c.3744G>T	XP_011539731.1:p.Met1248Ile
XR_946650.2:n.3815G>T
NM_001305275.2:c.3744G>T	NP_001292204.1:p.Met1248Ile
NM_198576.4:c.3744G>T MANE Select	NP_940978.2:p.Met1248Ile
NM_001364727.2:c.3429G>T	NP_001351656.1:p.Met1143Ile