Canonical Allele Identifier: CA363509913

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149161A>T (hg19) ; chr6:g.32181384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181384A>T , CM000668.2:g.32181384A>T	GRCh38
NC_000006.11:g.32149161A>T , CM000668.1:g.32149161A>T	GRCh37
NC_000006.10:g.32257139A>T	NCBI36
NG_029868.1:g.7939T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1085T>A MANE Select	ENSP00000364217.4:p.Leu362Ter
ENST00000375055.6:c.*29+140T>A	ENSP00000364195.2:n.*29+140T>A
ENST00000375065.6:c.272T>A	ENSP00000364206.6:p.Leu91Ter
ENST00000375067.7:c.930T>A	ENSP00000364208.3:p.Leu310=
ENST00000375069.7:c.1133T>A	ENSP00000364210.4:p.Leu378Ter
ENST00000375070.7:c.755T>A	ENSP00000364211.4:p.Leu252Ter
ENST00000375076.8:c.1085T>A	ENSP00000364217.4:p.Leu362Ter
ENST00000438221.6:c.*29+140T>A	ENSP00000387887.2:n.*29+140T>A
ENST00000469940.5:n.252T>A
ENST00000473619.5:n.627T>A
ENST00000484849.5:n.1292T>A
ENST00000488669.5:n.615+140T>A
ENST00000620802.4:c.332T>A	ENSP00000484081.1:p.Leu111Ter
NM_001136.4:c.1085T>A	NP_001127.1:p.Leu362Ter
NM_001206929.1:c.1133T>A	NP_001193858.1:p.Leu378Ter
NM_001206932.1:c.1043T>A	NP_001193861.1:p.Leu348Ter
NM_001206934.1:c.*29+140T>A	NP_001193863.1:n.*29+140T>A
NM_001206936.1:c.1021+140T>A	NP_001193865.1:n.1021+140T>A
NM_001206940.1:c.*29+140T>A	NP_001193869.1:n.*29+140T>A
NM_001206954.1:c.931+140T>A	NP_001193883.1:n.931+140T>A
NM_001206966.1:c.*29+140T>A	NP_001193895.1:n.*29+140T>A
NM_172197.2:c.930T>A	NP_751947.1:p.Leu310=
NR_038190.1:n.1368T>A
XM_017010328.2:c.1072+140T>A	XP_016865817.1:n.1072+140T>A
XR_001743189.2:n.1149T>A
XR_001743190.2:n.1101T>A
NM_001136.5:c.1085T>A MANE Select	NP_001127.1:p.Leu362Ter
NM_001206932.2:c.1043T>A	NP_001193861.1:p.Leu348Ter
NM_001206936.2:c.1021+140T>A	NP_001193865.1:n.1021+140T>A
NM_001206940.2:c.*29+140T>A	NP_001193869.1:n.*29+140T>A
NM_001206954.2:c.931+140T>A	NP_001193883.1:n.931+140T>A
NM_001206966.2:c.*29+140T>A	NP_001193895.1:n.*29+140T>A
NM_172197.3:c.930T>A	NP_751947.1:p.Leu310=
NR_038190.2:n.1299T>A
NM_001206929.2:c.1133T>A	NP_001193858.1:p.Leu378Ter
NM_001206934.2:c.*29+140T>A	NP_001193863.1:n.*29+140T>A