Canonical Allele Identifier: CA337852954

Gene: AGRN

Linked Data

• gnomAD v4: 1-1048160-G-C
• MyVariant Identifiers: chr1:g.983540G>C (hg19) ; chr1:g.1048160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048160G>C , CM000663.2:g.1048160G>C	GRCh38
NC_000001.10:g.983540G>C , CM000663.1:g.983540G>C	GRCh37
NC_000001.9:g.973403G>C	NCBI36
NG_016346.1:g.33038G>C , LRG_198:g.33038G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3900G>C MANE Select	ENSP00000368678.2:p.Lys1300Asn
ENST00000651234.1:c.3585G>C	ENSP00000499046.1:p.Lys1195Asn
ENST00000652369.1:c.3585G>C	ENSP00000498543.1:p.Lys1195Asn
ENST00000379370.6:c.3900G>C	ENSP00000368678.2:p.Lys1300Asn
ENST00000620552.4:c.3486G>C	ENSP00000484607.1:p.Lys1162Asn
NM_001305275.1:c.3900G>C	NP_001292204.1:p.Lys1300Asn
NM_198576.3:c.3900G>C	NP_940978.2:p.Lys1300Asn
XM_005244749.2:c.3900G>C	XP_005244806.1:p.Lys1300Asn
XM_006710635.2:c.3900G>C	XP_006710698.1:p.Lys1300Asn
XM_011541429.1:c.3900G>C	XP_011539731.1:p.Lys1300Asn
XM_011541430.1:c.3027G>C	XP_011539732.1:p.Lys1009Asn
XM_011541431.1:c.2166G>C	XP_011539733.1:p.Lys722Asn
XR_946650.1:n.3967G>C
NM_001364727.1:c.3585G>C	NP_001351656.1:p.Lys1195Asn
XM_005244749.3:c.3900G>C	XP_005244806.1:p.Lys1300Asn
XM_011541429.2:c.3900G>C	XP_011539731.1:p.Lys1300Asn
XR_946650.2:n.3971G>C
NM_001305275.2:c.3900G>C	NP_001292204.1:p.Lys1300Asn
NM_198576.4:c.3900G>C MANE Select	NP_940978.2:p.Lys1300Asn
NM_001364727.2:c.3585G>C	NP_001351656.1:p.Lys1195Asn