Canonical Allele Identifier: CA400558185

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566334A>C (hg19) ; chr17:g.63488973A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488973A>C , CM000679.2:g.63488973A>C	GRCh38
NC_000017.10:g.61566334A>C , CM000679.1:g.61566334A>C	GRCh37
NC_000017.9:g.58920066A>C	NCBI36
NG_011648.1:g.16901A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2482A>C MANE Select	ENSP00000290866.4:p.Met828Leu
ENST00000290863.10:c.760A>C	ENSP00000290863.6:p.Met254Leu
ENST00000290866.9:c.2482A>C	ENSP00000290866.4:p.Met828Leu
ENST00000413513.7:c.760A>C	ENSP00000392247.3:p.Met254Leu
ENST00000428043.5:c.2482A>C	ENSP00000397593.2:p.Met828Leu
ENST00000577647.2:c.760A>C	ENSP00000464149.1:p.Met254Leu
ENST00000578839.5:c.*519+182A>C	ENSP00000462110.2:n.*519+182A>C
ENST00000579204.1:c.741A>C	ENSP00000464629.1:n.741A>C
ENST00000579314.5:c.*211A>C	ENSP00000462599.1:n.*211A>C
ENST00000582005.5:c.*402A>C	ENSP00000462002.1:n.*402A>C
ENST00000582761.1:c.250A>C	ENSP00000462909.1:p.Met84Leu
ENST00000584865.5:n.428A>C
NM_000789.3:c.2482A>C	NP_000780.1:p.Met828Leu
NM_001178057.1:c.760A>C	NP_001171528.1:p.Met254Leu
NM_152830.2:c.760A>C	NP_690043.1:p.Met254Leu
XM_005257110.1:c.1933A>C	XP_005257167.1:p.Met645Leu
XM_006721737.2:c.820A>C	XP_006721800.2:p.Met274Leu
XM_006721737.3:c.820A>C	XP_006721800.2:p.Met274Leu
NM_000789.4:c.2482A>C MANE Select	NP_000780.1:p.Met828Leu
NM_001178057.2:c.760A>C	NP_001171528.1:p.Met254Leu
NM_152830.3:c.760A>C	NP_690043.1:p.Met254Leu
NM_001382700.1:c.1915A>C	NP_001369629.1:p.Met639Leu
NM_001382701.1:c.1630A>C	NP_001369630.1:p.Met544Leu
NM_001382702.1:c.379+182A>C	NP_001369631.1:n.379+182A>C
NR_168483.1:n.860A>C