Canonical Allele Identifier: CA341316480

Gene: AGL

Linked Data

• gnomAD v4: 1-99880680-G-C
• MyVariant Identifiers: chr1:g.100346236G>C (hg19) ; chr1:g.99880680G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99880680G>C , CM000663.2:g.99880680G>C	GRCh38
NC_000001.10:g.100346236G>C , CM000663.1:g.100346236G>C	GRCh37
NC_000001.9:g.100118824G>C	NCBI36
NG_012865.1:g.35597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.1784G>C MANE Select	ENSP00000355106.3:p.Arg595Pro
ENST00000637337.1:n.1995G>C
ENST00000294724.8:c.1784G>C	ENSP00000294724.4:p.Arg595Pro
ENST00000361302.7:c.1736G>C	ENSP00000354971.3:p.Arg579Pro
ENST00000361522.4:c.1733G>C	ENSP00000354635.4:p.Arg578Pro
ENST00000361915.7:c.1784G>C	ENSP00000355106.3:p.Arg595Pro
ENST00000370161.6:c.1736G>C	ENSP00000359180.2:p.Arg579Pro
ENST00000370163.7:c.1784G>C	ENSP00000359182.3:p.Arg595Pro
ENST00000370165.7:c.1784G>C	ENSP00000359184.3:p.Arg595Pro
NM_000028.2:c.1784G>C	NP_000019.2:p.Arg595Pro
NM_000642.2:c.1784G>C	NP_000633.2:p.Arg595Pro
NM_000643.2:c.1784G>C	NP_000634.2:p.Arg595Pro
NM_000644.2:c.1784G>C	NP_000635.2:p.Arg595Pro
NM_000645.2:c.1733G>C	NP_000636.2:p.Arg578Pro
NM_000646.2:c.1736G>C	NP_000637.2:p.Arg579Pro
XM_005270557.1:c.1784G>C	XP_005270614.1:p.Arg595Pro
XM_005270557.2:c.1784G>C	XP_005270614.1:p.Arg595Pro
XM_017000501.2:c.44G>C	XP_016855990.1:p.Arg15Pro
NM_000642.3:c.1784G>C MANE Select	NP_000633.2:p.Arg595Pro