Canonical Allele Identifier: CA415756285
Gene: AGRN HGNC NCBI

Linked Data

dbSNP Id: rs1644421658
gnomAD v3: 1-1022233-C-T
gnomAD v4: 1-1022233-C-T
MyVariant Identifiers: chr1:g.957613C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1022233C>T , CM000663.2:g.1022233C>T GRCh38
NC_000001.10:g.957613C>T , CM000663.1:g.957613C>T GRCh37
NC_000001.9:g.947476C>T NCBI36
NG_016346.1:g.7111C>T , LRG_198:g.7111C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000379370.7:c.234C>T MANE Select ENSP00000368678.2:p.Asp78=
ENST00000379370.6:c.234C>T ENSP00000368678.2:p.Asp78=
ENST00000620552.4:c.-181C>T ENSP00000484607.1:n.-181C>T
NM_001305275.1:c.234C>T NP_001292204.1:p.Asp78=
NM_198576.3:c.234C>T NP_940978.2:p.Asp78=
XM_005244749.2:c.234C>T XP_005244806.1:p.Asp78=
XM_006710635.2:c.234C>T XP_006710698.1:p.Asp78=
XM_011541429.1:c.234C>T XP_011539731.1:p.Asp78=
XM_011541430.1:c.234C>T XP_011539732.1:p.Asp78=
XR_946650.1:n.301C>T
XM_005244749.3:c.234C>T XP_005244806.1:p.Asp78=
XM_011541429.2:c.234C>T XP_011539731.1:p.Asp78=
XR_946650.2:n.305C>T
NM_001305275.2:c.234C>T NP_001292204.1:p.Asp78=
NM_198576.4:c.234C>T MANE Select NP_940978.2:p.Asp78=