Canonical Allele Identifier: CA337853032

Gene: AGRN

Linked Data

• dbSNP Id: rs2100668502
• gnomAD v4: 1-1048179-A-C
• MyVariant Identifiers: chr1:g.983559A>C (hg19) ; chr1:g.1048179A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048179A>C , CM000663.2:g.1048179A>C	GRCh38
NC_000001.10:g.983559A>C , CM000663.1:g.983559A>C	GRCh37
NC_000001.9:g.973422A>C	NCBI36
NG_016346.1:g.33057A>C , LRG_198:g.33057A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3919A>C MANE Select	ENSP00000368678.2:p.Thr1307Pro
ENST00000651234.1:c.3604A>C	ENSP00000499046.1:p.Thr1202Pro
ENST00000652369.1:c.3604A>C	ENSP00000498543.1:p.Thr1202Pro
ENST00000379370.6:c.3919A>C	ENSP00000368678.2:p.Thr1307Pro
ENST00000620552.4:c.3505A>C	ENSP00000484607.1:p.Thr1169Pro
NM_001305275.1:c.3919A>C	NP_001292204.1:p.Thr1307Pro
NM_198576.3:c.3919A>C	NP_940978.2:p.Thr1307Pro
XM_005244749.2:c.3919A>C	XP_005244806.1:p.Thr1307Pro
XM_006710635.2:c.3919A>C	XP_006710698.1:p.Thr1307Pro
XM_011541429.1:c.3919A>C	XP_011539731.1:p.Thr1307Pro
XM_011541430.1:c.3046A>C	XP_011539732.1:p.Thr1016Pro
XM_011541431.1:c.2185A>C	XP_011539733.1:p.Thr729Pro
XR_946650.1:n.3986A>C
NM_001364727.1:c.3604A>C	NP_001351656.1:p.Thr1202Pro
XM_005244749.3:c.3919A>C	XP_005244806.1:p.Thr1307Pro
XM_011541429.2:c.3919A>C	XP_011539731.1:p.Thr1307Pro
XR_946650.2:n.3990A>C
NM_001305275.2:c.3919A>C	NP_001292204.1:p.Thr1307Pro
NM_198576.4:c.3919A>C MANE Select	NP_940978.2:p.Thr1307Pro
NM_001364727.2:c.3604A>C	NP_001351656.1:p.Thr1202Pro