Canonical Allele Identifier: CA400556629

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564364G>C (hg19) ; chr17:g.63487003G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487003G>C , CM000679.2:g.63487003G>C	GRCh38
NC_000017.10:g.61564364G>C , CM000679.1:g.61564364G>C	GRCh37
NC_000017.9:g.58918096G>C	NCBI36
NG_011648.1:g.14931G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2235G>C MANE Select	ENSP00000290866.4:p.Leu745Phe
ENST00000290863.10:c.513G>C	ENSP00000290863.6:p.Leu171Phe
ENST00000290866.9:c.2235G>C	ENSP00000290866.4:p.Leu745Phe
ENST00000413513.7:c.513G>C	ENSP00000392247.3:p.Leu171Phe
ENST00000428043.5:c.2235G>C	ENSP00000397593.2:p.Leu745Phe
ENST00000577647.2:c.513G>C	ENSP00000464149.1:p.Leu171Phe
ENST00000578839.5:c.*305G>C	ENSP00000462110.2:n.*305G>C
ENST00000579204.1:c.416G>C	ENSP00000464629.1:n.416G>C
ENST00000579314.5:c.513G>C	ENSP00000462599.1:p.Leu171Phe
ENST00000579726.5:c.797G>C
ENST00000582005.5:c.*155G>C	ENSP00000462002.1:n.*155G>C
ENST00000582761.1:c.3G>C	ENSP00000462909.1:p.Leu1Phe
ENST00000584865.5:n.181G>C
NM_000789.3:c.2235G>C	NP_000780.1:p.Leu745Phe
NM_001178057.1:c.513G>C	NP_001171528.1:p.Leu171Phe
NM_152830.2:c.513G>C	NP_690043.1:p.Leu171Phe
XM_005257110.1:c.1686G>C	XP_005257167.1:p.Leu562Phe
XM_006721737.2:c.573G>C	XP_006721800.2:p.Leu191Phe
XM_006721737.3:c.573G>C	XP_006721800.2:p.Leu191Phe
NM_000789.4:c.2235G>C MANE Select	NP_000780.1:p.Leu745Phe
NM_001178057.2:c.513G>C	NP_001171528.1:p.Leu171Phe
NM_152830.3:c.513G>C	NP_690043.1:p.Leu171Phe
NM_001382700.1:c.1668G>C	NP_001369629.1:p.Leu556Phe
NM_001382701.1:c.1383G>C	NP_001369630.1:p.Leu461Phe
NM_001382702.1:c.165G>C	NP_001369631.1:p.Leu55Phe
NR_168483.1:n.535G>C