Canonical Allele Identifier: CA337853026

Gene: AGRN

Linked Data

• dbSNP Id: rs2100668489
• gnomAD v4: 1-1048176-A-C
• MyVariant Identifiers: chr1:g.983556A>C (hg19) ; chr1:g.1048176A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.1048176A>C , CM000663.2:g.1048176A>C	GRCh38
NC_000001.10:g.983556A>C , CM000663.1:g.983556A>C	GRCh37
NC_000001.9:g.973419A>C	NCBI36
NG_016346.1:g.33054A>C , LRG_198:g.33054A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379370.7:c.3916A>C MANE Select	ENSP00000368678.2:p.Thr1306Pro
ENST00000651234.1:c.3601A>C	ENSP00000499046.1:p.Thr1201Pro
ENST00000652369.1:c.3601A>C	ENSP00000498543.1:p.Thr1201Pro
ENST00000379370.6:c.3916A>C	ENSP00000368678.2:p.Thr1306Pro
ENST00000620552.4:c.3502A>C	ENSP00000484607.1:p.Thr1168Pro
NM_001305275.1:c.3916A>C	NP_001292204.1:p.Thr1306Pro
NM_198576.3:c.3916A>C	NP_940978.2:p.Thr1306Pro
XM_005244749.2:c.3916A>C	XP_005244806.1:p.Thr1306Pro
XM_006710635.2:c.3916A>C	XP_006710698.1:p.Thr1306Pro
XM_011541429.1:c.3916A>C	XP_011539731.1:p.Thr1306Pro
XM_011541430.1:c.3043A>C	XP_011539732.1:p.Thr1015Pro
XM_011541431.1:c.2182A>C	XP_011539733.1:p.Thr728Pro
XR_946650.1:n.3983A>C
NM_001364727.1:c.3601A>C	NP_001351656.1:p.Thr1201Pro
XM_005244749.3:c.3916A>C	XP_005244806.1:p.Thr1306Pro
XM_011541429.2:c.3916A>C	XP_011539731.1:p.Thr1306Pro
XR_946650.2:n.3987A>C
NM_001305275.2:c.3916A>C	NP_001292204.1:p.Thr1306Pro
NM_198576.4:c.3916A>C MANE Select	NP_940978.2:p.Thr1306Pro
NM_001364727.2:c.3601A>C	NP_001351656.1:p.Thr1201Pro