Canonical Allele Identifier: CA363509905

Gene: AGER

Linked Data

• MyVariant Identifiers: chr6:g.32149160C>G (hg19) ; chr6:g.32181383C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181383C>G , CM000668.2:g.32181383C>G	GRCh38
NC_000006.11:g.32149160C>G , CM000668.1:g.32149160C>G	GRCh37
NC_000006.10:g.32257138C>G	NCBI36
NG_029868.1:g.7940G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375076.9:c.1086G>C MANE Select	ENSP00000364217.4:p.Leu362Phe
ENST00000375055.6:c.*29+141G>C	ENSP00000364195.2:n.*29+141G>C
ENST00000375065.6:c.273G>C	ENSP00000364206.6:p.Leu91Phe
ENST00000375067.7:c.931G>C	ENSP00000364208.3:p.Val311Leu
ENST00000375069.7:c.1134G>C	ENSP00000364210.4:p.Leu378Phe
ENST00000375070.7:c.756G>C	ENSP00000364211.4:p.Leu252Phe
ENST00000375076.8:c.1086G>C	ENSP00000364217.4:p.Leu362Phe
ENST00000438221.6:c.*29+141G>C	ENSP00000387887.2:n.*29+141G>C
ENST00000469940.5:n.253G>C
ENST00000473619.5:n.628G>C
ENST00000484849.5:n.1293G>C
ENST00000488669.5:n.615+141G>C
ENST00000620802.4:c.333G>C	ENSP00000484081.1:p.Leu111Phe
NM_001136.4:c.1086G>C	NP_001127.1:p.Leu362Phe
NM_001206929.1:c.1134G>C	NP_001193858.1:p.Leu378Phe
NM_001206932.1:c.1044G>C	NP_001193861.1:p.Leu348Phe
NM_001206934.1:c.*29+141G>C	NP_001193863.1:n.*29+141G>C
NM_001206936.1:c.1021+141G>C	NP_001193865.1:n.1021+141G>C
NM_001206940.1:c.*29+141G>C	NP_001193869.1:n.*29+141G>C
NM_001206954.1:c.931+141G>C	NP_001193883.1:n.931+141G>C
NM_001206966.1:c.*29+141G>C	NP_001193895.1:n.*29+141G>C
NM_172197.2:c.931G>C	NP_751947.1:p.Val311Leu
NR_038190.1:n.1369G>C
XM_017010328.2:c.1072+141G>C	XP_016865817.1:n.1072+141G>C
XR_001743189.2:n.1150G>C
XR_001743190.2:n.1102G>C
NM_001136.5:c.1086G>C MANE Select	NP_001127.1:p.Leu362Phe
NM_001206932.2:c.1044G>C	NP_001193861.1:p.Leu348Phe
NM_001206936.2:c.1021+141G>C	NP_001193865.1:n.1021+141G>C
NM_001206940.2:c.*29+141G>C	NP_001193869.1:n.*29+141G>C
NM_001206954.2:c.931+141G>C	NP_001193883.1:n.931+141G>C
NM_001206966.2:c.*29+141G>C	NP_001193895.1:n.*29+141G>C
NM_172197.3:c.931G>C	NP_751947.1:p.Val311Leu
NR_038190.2:n.1300G>C
NM_001206929.2:c.1134G>C	NP_001193858.1:p.Leu378Phe
NM_001206934.2:c.*29+141G>C	NP_001193863.1:n.*29+141G>C