Canonical Allele Identifier: CA341323810

Gene: AGL

Linked Data

• gnomAD v4: 1-99851107-T-C
• MyVariant Identifiers: chr1:g.100316663T>C (hg19) ; chr1:g.99851107T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.99851107T>C , CM000663.2:g.99851107T>C	GRCh38
NC_000001.10:g.100316663T>C , CM000663.1:g.100316663T>C	GRCh37
NC_000001.9:g.100089251T>C	NCBI36
NG_012865.1:g.6024T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000361915.8:c.65T>C MANE Select	ENSP00000355106.3:p.Leu22Pro
ENST00000294724.8:c.65T>C	ENSP00000294724.4:p.Leu22Pro
ENST00000361302.7:c.-127T>C	ENSP00000354971.3:n.-127T>C
ENST00000361915.7:c.65T>C	ENSP00000355106.3:p.Leu22Pro
ENST00000370163.7:c.65T>C	ENSP00000359182.3:p.Leu22Pro
ENST00000370165.7:c.65T>C	ENSP00000359184.3:p.Leu22Pro
NM_000028.2:c.65T>C	NP_000019.2:p.Leu22Pro
NM_000642.2:c.65T>C	NP_000633.2:p.Leu22Pro
NM_000643.2:c.65T>C	NP_000634.2:p.Leu22Pro
NM_000644.2:c.65T>C	NP_000635.2:p.Leu22Pro
NM_000646.2:c.-127T>C	NP_000637.2:n.-127T>C
XM_005270557.1:c.65T>C	XP_005270614.1:p.Leu22Pro
XM_005270557.2:c.65T>C	XP_005270614.1:p.Leu22Pro
NM_000642.3:c.65T>C MANE Select	NP_000633.2:p.Leu22Pro