Canonical Allele Identifier: CA341339671

Gene: AGL

Linked Data

• ClinVar Variation Id: 1461387
• ClinVar RCV Id: RCV001965824
• dbSNP Id: rs2101112237
• MyVariant Identifiers: chr1:g.100336033T>C (hg19) ; chr1:g.99870477T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99870477T>C , CM000663.2:g.99870477T>C	GRCh38
NC_000001.10:g.100336033T>C , CM000663.1:g.100336033T>C	GRCh37
NC_000001.9:g.100108621T>C	NCBI36
NG_012865.1:g.25394T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.742T>C MANE Select	ENSP00000355106.3:p.Trp248Arg
ENST00000637337.1:n.953T>C
ENST00000294724.8:c.742T>C	ENSP00000294724.4:p.Trp248Arg
ENST00000361302.7:c.694T>C	ENSP00000354971.3:p.Trp232Arg
ENST00000361522.4:c.691T>C	ENSP00000354635.4:p.Trp231Arg
ENST00000361915.7:c.742T>C	ENSP00000355106.3:p.Trp248Arg
ENST00000370161.6:c.694T>C	ENSP00000359180.2:p.Trp232Arg
ENST00000370163.7:c.742T>C	ENSP00000359182.3:p.Trp248Arg
ENST00000370165.7:c.742T>C	ENSP00000359184.3:p.Trp248Arg
NM_000028.2:c.742T>C	NP_000019.2:p.Trp248Arg
NM_000642.2:c.742T>C	NP_000633.2:p.Trp248Arg
NM_000643.2:c.742T>C	NP_000634.2:p.Trp248Arg
NM_000644.2:c.742T>C	NP_000635.2:p.Trp248Arg
NM_000645.2:c.691T>C	NP_000636.2:p.Trp231Arg
NM_000646.2:c.694T>C	NP_000637.2:p.Trp232Arg
XM_005270557.1:c.742T>C	XP_005270614.1:p.Trp248Arg
XM_005270557.2:c.742T>C	XP_005270614.1:p.Trp248Arg
NM_000642.3:c.742T>C MANE Select	NP_000633.2:p.Trp248Arg