Canonical Allele Identifier: CA400567207

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61574249G>C (hg19) ; chr17:g.63496888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496888G>C , CM000679.2:g.63496888G>C	GRCh38
NC_000017.10:g.61574249G>C , CM000679.1:g.61574249G>C	GRCh37
NC_000017.9:g.58927981G>C	NCBI36
NG_011648.1:g.24816G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3594G>C MANE Select	ENSP00000290866.4:p.Leu1198Phe
ENST00000290863.10:c.1872G>C	ENSP00000290863.6:p.Leu624Phe
ENST00000290866.9:c.3594G>C	ENSP00000290866.4:p.Leu1198Phe
ENST00000413513.7:c.1749G>C	ENSP00000392247.3:p.Leu583Phe
ENST00000428043.5:c.3594G>C	ENSP00000397593.2:p.Leu1198Phe
ENST00000577418.5:n.604G>C
ENST00000577647.2:c.1872G>C	ENSP00000464149.1:p.Leu624Phe
ENST00000578839.5:c.*1349G>C	ENSP00000462110.2:n.*1349G>C
ENST00000579314.5:c.*1323G>C	ENSP00000462599.1:n.*1323G>C
ENST00000579409.1:c.281G>C
ENST00000582244.1:n.468G>C
NM_000789.3:c.3594G>C	NP_000780.1:p.Leu1198Phe
NM_001178057.1:c.1749G>C	NP_001171528.1:p.Leu583Phe
NM_152830.2:c.1872G>C	NP_690043.1:p.Leu624Phe
XM_005257110.1:c.3045G>C	XP_005257167.1:p.Leu1015Phe
XM_006721737.2:c.1932G>C	XP_006721800.2:p.Leu644Phe
XM_006721737.3:c.1932G>C	XP_006721800.2:p.Leu644Phe
NM_000789.4:c.3594G>C MANE Select	NP_000780.1:p.Leu1198Phe
NM_001178057.2:c.1749G>C	NP_001171528.1:p.Leu583Phe
NM_152830.3:c.1872G>C	NP_690043.1:p.Leu624Phe
NM_001382700.1:c.3027G>C	NP_001369629.1:p.Leu1009Phe
NM_001382701.1:c.2742G>C	NP_001369630.1:p.Leu914Phe
NM_001382702.1:c.1209G>C	NP_001369631.1:p.Leu403Phe
NR_168483.1:n.1972G>C