Canonical Allele Identifier: CA363509985

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149174T>G (hg19) ; chr6:g.32181397T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181397T>G , CM000668.2:g.32181397T>G	GRCh38
NC_000006.11:g.32149174T>G , CM000668.1:g.32149174T>G	GRCh37
NC_000006.10:g.32257152T>G	NCBI36
NG_029868.1:g.7926A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.1072A>C MANE Select	ENSP00000364217.4:p.Ile358Leu
ENST00000375055.6:c.*29+127A>C	ENSP00000364195.2:n.*29+127A>C
ENST00000375065.6:c.259A>C	ENSP00000364206.6:p.Ile87Leu
ENST00000375067.7:c.917A>C	ENSP00000364208.3:p.His306Pro
ENST00000375069.7:c.1120A>C	ENSP00000364210.4:p.Ile374Leu
ENST00000375070.7:c.742A>C	ENSP00000364211.4:p.Ile248Leu
ENST00000375076.8:c.1072A>C	ENSP00000364217.4:p.Ile358Leu
ENST00000438221.6:c.*29+127A>C	ENSP00000387887.2:n.*29+127A>C
ENST00000469940.5:n.239A>C
ENST00000473619.5:n.614A>C
ENST00000484849.5:n.1279A>C
ENST00000488669.5:n.615+127A>C
ENST00000620802.4:c.319A>C	ENSP00000484081.1:p.Ile107Leu
NM_001136.4:c.1072A>C	NP_001127.1:p.Ile358Leu
NM_001206929.1:c.1120A>C	NP_001193858.1:p.Ile374Leu
NM_001206932.1:c.1030A>C	NP_001193861.1:p.Ile344Leu
NM_001206934.1:c.*29+127A>C	NP_001193863.1:n.*29+127A>C
NM_001206936.1:c.1021+127A>C	NP_001193865.1:n.1021+127A>C
NM_001206940.1:c.*29+127A>C	NP_001193869.1:n.*29+127A>C
NM_001206954.1:c.931+127A>C	NP_001193883.1:n.931+127A>C
NM_001206966.1:c.*29+127A>C	NP_001193895.1:n.*29+127A>C
NM_172197.2:c.917A>C	NP_751947.1:p.His306Pro
NR_038190.1:n.1355A>C
XM_017010328.2:c.1072+127A>C	XP_016865817.1:n.1072+127A>C
XR_001743189.2:n.1136A>C
XR_001743190.2:n.1088A>C
NM_001136.5:c.1072A>C MANE Select	NP_001127.1:p.Ile358Leu
NM_001206932.2:c.1030A>C	NP_001193861.1:p.Ile344Leu
NM_001206936.2:c.1021+127A>C	NP_001193865.1:n.1021+127A>C
NM_001206940.2:c.*29+127A>C	NP_001193869.1:n.*29+127A>C
NM_001206954.2:c.931+127A>C	NP_001193883.1:n.931+127A>C
NM_001206966.2:c.*29+127A>C	NP_001193895.1:n.*29+127A>C
NM_172197.3:c.917A>C	NP_751947.1:p.His306Pro
NR_038190.2:n.1286A>C
NM_001206929.2:c.1120A>C	NP_001193858.1:p.Ile374Leu
NM_001206934.2:c.*29+127A>C	NP_001193863.1:n.*29+127A>C