Canonical Allele Identifier: CA337851923

Gene: AGRN

Linked Data

• dbSNP Id: rs1222355555
• gnomAD v3: 1-1047887-T-C
• gnomAD v4: 1-1047887-T-C
• MyVariant Identifiers: chr1:g.983267T>C (hg19) ; chr1:g.1047887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1047887T>C , CM000663.2:g.1047887T>C	GRCh38
NC_000001.10:g.983267T>C , CM000663.1:g.983267T>C	GRCh37
NC_000001.9:g.973130T>C	NCBI36
NG_016346.1:g.32765T>C , LRG_198:g.32765T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3743T>C MANE Select	ENSP00000368678.2:p.Met1248Thr
ENST00000651234.1:c.3428T>C	ENSP00000499046.1:p.Met1143Thr
ENST00000652369.1:c.3428T>C	ENSP00000498543.1:p.Met1143Thr
ENST00000379370.6:c.3743T>C	ENSP00000368678.2:p.Met1248Thr
ENST00000620552.4:c.3329T>C	ENSP00000484607.1:p.Met1110Thr
NM_001305275.1:c.3743T>C	NP_001292204.1:p.Met1248Thr
NM_198576.3:c.3743T>C	NP_940978.2:p.Met1248Thr
XM_005244749.2:c.3743T>C	XP_005244806.1:p.Met1248Thr
XM_006710635.2:c.3743T>C	XP_006710698.1:p.Met1248Thr
XM_011541429.1:c.3743T>C	XP_011539731.1:p.Met1248Thr
XM_011541430.1:c.2870T>C	XP_011539732.1:p.Met957Thr
XM_011541431.1:c.2009T>C	XP_011539733.1:p.Met670Thr
XR_946650.1:n.3810T>C
NM_001364727.1:c.3428T>C	NP_001351656.1:p.Met1143Thr
XM_005244749.3:c.3743T>C	XP_005244806.1:p.Met1248Thr
XM_011541429.2:c.3743T>C	XP_011539731.1:p.Met1248Thr
XR_946650.2:n.3814T>C
NM_001305275.2:c.3743T>C	NP_001292204.1:p.Met1248Thr
NM_198576.4:c.3743T>C MANE Select	NP_940978.2:p.Met1248Thr
NM_001364727.2:c.3428T>C	NP_001351656.1:p.Met1143Thr