Canonical Allele Identifier: CA337852155

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048018-T-C
• MyVariant Identifiers: chr1:g.983398T>C (hg19) ; chr1:g.1048018T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048018T>C , CM000663.2:g.1048018T>C	GRCh38
NC_000001.10:g.983398T>C , CM000663.1:g.983398T>C	GRCh37
NC_000001.9:g.973261T>C	NCBI36
NG_016346.1:g.32896T>C , LRG_198:g.32896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3758T>C MANE Select	ENSP00000368678.2:p.Phe1253Ser
ENST00000651234.1:c.3443T>C	ENSP00000499046.1:p.Phe1148Ser
ENST00000652369.1:c.3443T>C	ENSP00000498543.1:p.Phe1148Ser
ENST00000379370.6:c.3758T>C	ENSP00000368678.2:p.Phe1253Ser
ENST00000620552.4:c.3344T>C	ENSP00000484607.1:p.Phe1115Ser
NM_001305275.1:c.3758T>C	NP_001292204.1:p.Phe1253Ser
NM_198576.3:c.3758T>C	NP_940978.2:p.Phe1253Ser
XM_005244749.2:c.3758T>C	XP_005244806.1:p.Phe1253Ser
XM_006710635.2:c.3758T>C	XP_006710698.1:p.Phe1253Ser
XM_011541429.1:c.3758T>C	XP_011539731.1:p.Phe1253Ser
XM_011541430.1:c.2885T>C	XP_011539732.1:p.Phe962Ser
XM_011541431.1:c.2024T>C	XP_011539733.1:p.Phe675Ser
XR_946650.1:n.3825T>C
NM_001364727.1:c.3443T>C	NP_001351656.1:p.Phe1148Ser
XM_005244749.3:c.3758T>C	XP_005244806.1:p.Phe1253Ser
XM_011541429.2:c.3758T>C	XP_011539731.1:p.Phe1253Ser
XR_946650.2:n.3829T>C
NM_001305275.2:c.3758T>C	NP_001292204.1:p.Phe1253Ser
NM_198576.4:c.3758T>C MANE Select	NP_940978.2:p.Phe1253Ser
NM_001364727.2:c.3443T>C	NP_001351656.1:p.Phe1148Ser