Canonical Allele Identifier: CA337853379

Gene: AGRN

Linked Data

• dbSNP Id: rs1645162094
• gnomAD v4: 1-1048301-G-C
• MyVariant Identifiers: chr1:g.983681G>C (hg19) ; chr1:g.1048301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048301G>C , CM000663.2:g.1048301G>C	GRCh38
NC_000001.10:g.983681G>C , CM000663.1:g.983681G>C	GRCh37
NC_000001.9:g.973544G>C	NCBI36
NG_016346.1:g.33179G>C , LRG_198:g.33179G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.4041G>C MANE Select	ENSP00000368678.2:p.Trp1347Cys
ENST00000651234.1:c.3726G>C	ENSP00000499046.1:p.Trp1242Cys
ENST00000652369.1:c.3726G>C	ENSP00000498543.1:p.Trp1242Cys
ENST00000379370.6:c.4041G>C	ENSP00000368678.2:p.Trp1347Cys
ENST00000620552.4:c.3627G>C	ENSP00000484607.1:p.Trp1209Cys
NM_001305275.1:c.4041G>C	NP_001292204.1:p.Trp1347Cys
NM_198576.3:c.4041G>C	NP_940978.2:p.Trp1347Cys
XM_005244749.2:c.4041G>C	XP_005244806.1:p.Trp1347Cys
XM_006710635.2:c.4041G>C	XP_006710698.1:p.Trp1347Cys
XM_011541429.1:c.4041G>C	XP_011539731.1:p.Trp1347Cys
XM_011541430.1:c.3168G>C	XP_011539732.1:p.Trp1056Cys
XM_011541431.1:c.2307G>C	XP_011539733.1:p.Trp769Cys
XR_946650.1:n.4108G>C
NM_001364727.1:c.3726G>C	NP_001351656.1:p.Trp1242Cys
XM_005244749.3:c.4041G>C	XP_005244806.1:p.Trp1347Cys
XM_011541429.2:c.4041G>C	XP_011539731.1:p.Trp1347Cys
XR_946650.2:n.4112G>C
NM_001305275.2:c.4041G>C	NP_001292204.1:p.Trp1347Cys
NM_198576.4:c.4041G>C MANE Select	NP_940978.2:p.Trp1347Cys
NM_001364727.2:c.3726G>C	NP_001351656.1:p.Trp1242Cys