Canonical Allele Identifier: CA341326126

Gene: AGL

Linked Data

• MyVariant Identifiers: chr1:g.100357245A>C (hg19) ; chr1:g.99891689A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99891689A>C , CM000663.2:g.99891689A>C	GRCh38
NC_000001.10:g.100357245A>C , CM000663.1:g.100357245A>C	GRCh37
NC_000001.9:g.100129833A>C	NCBI36
NG_012865.1:g.46606A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361915.8:c.3033A>C MANE Select	ENSP00000355106.3:p.Leu1011Phe
ENST00000637337.1:n.3244A>C
ENST00000294724.8:c.3033A>C	ENSP00000294724.4:p.Leu1011Phe
ENST00000361302.7:c.2985A>C	ENSP00000354971.3:p.Leu995Phe
ENST00000361522.4:c.2982A>C	ENSP00000354635.4:p.Leu994Phe
ENST00000361915.7:c.3033A>C	ENSP00000355106.3:p.Leu1011Phe
ENST00000370161.6:c.2985A>C	ENSP00000359180.2:p.Leu995Phe
ENST00000370163.7:c.3033A>C	ENSP00000359182.3:p.Leu1011Phe
ENST00000370165.7:c.3033A>C	ENSP00000359184.3:p.Leu1011Phe
NM_000028.2:c.3033A>C	NP_000019.2:p.Leu1011Phe
NM_000642.2:c.3033A>C	NP_000633.2:p.Leu1011Phe
NM_000643.2:c.3033A>C	NP_000634.2:p.Leu1011Phe
NM_000644.2:c.3033A>C	NP_000635.2:p.Leu1011Phe
NM_000645.2:c.2982A>C	NP_000636.2:p.Leu994Phe
NM_000646.2:c.2985A>C	NP_000637.2:p.Leu995Phe
XM_005270557.1:c.3033A>C	XP_005270614.1:p.Leu1011Phe
XM_005270557.2:c.3033A>C	XP_005270614.1:p.Leu1011Phe
XM_017000501.2:c.1293A>C	XP_016855990.1:p.Leu431Phe
NM_000642.3:c.3033A>C MANE Select	NP_000633.2:p.Leu1011Phe