Canonical Allele Identifier: CA400567312

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574258C>G (hg19) ; chr17:g.63496897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496897C>G , CM000679.2:g.63496897C>G	GRCh38
NC_000017.10:g.61574258C>G , CM000679.1:g.61574258C>G	GRCh37
NC_000017.9:g.58927990C>G	NCBI36
NG_011648.1:g.24825C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.3603C>G MANE Select	ENSP00000290866.4:p.Phe1201Leu
ENST00000290863.10:c.1881C>G	ENSP00000290863.6:p.Phe627Leu
ENST00000290866.9:c.3603C>G	ENSP00000290866.4:p.Phe1201Leu
ENST00000413513.7:c.1758C>G	ENSP00000392247.3:p.Phe586Leu
ENST00000428043.5:c.3603C>G	ENSP00000397593.2:p.Phe1201Leu
ENST00000577418.5:n.613C>G
ENST00000577647.2:c.1881C>G	ENSP00000464149.1:p.Phe627Leu
ENST00000578839.5:c.*1358C>G	ENSP00000462110.2:n.*1358C>G
ENST00000579314.5:c.*1332C>G	ENSP00000462599.1:n.*1332C>G
ENST00000579409.1:c.290C>G
ENST00000582244.1:n.477C>G
NM_000789.3:c.3603C>G	NP_000780.1:p.Phe1201Leu
NM_001178057.1:c.1758C>G	NP_001171528.1:p.Phe586Leu
NM_152830.2:c.1881C>G	NP_690043.1:p.Phe627Leu
XM_005257110.1:c.3054C>G	XP_005257167.1:p.Phe1018Leu
XM_006721737.2:c.1941C>G	XP_006721800.2:p.Phe647Leu
XM_006721737.3:c.1941C>G	XP_006721800.2:p.Phe647Leu
NM_000789.4:c.3603C>G MANE Select	NP_000780.1:p.Phe1201Leu
NM_001178057.2:c.1758C>G	NP_001171528.1:p.Phe586Leu
NM_152830.3:c.1881C>G	NP_690043.1:p.Phe627Leu
NM_001382700.1:c.3036C>G	NP_001369629.1:p.Phe1012Leu
NM_001382701.1:c.2751C>G	NP_001369630.1:p.Phe917Leu
NM_001382702.1:c.1218C>G	NP_001369631.1:p.Phe406Leu
NR_168483.1:n.1981C>G