Canonical Allele Identifier: CA400557874

Gene: ACE

Linked Data

• gnomAD v4: 17-63488690-T-C
• MyVariant Identifiers: chr17:g.61566051T>C (hg19) ; chr17:g.63488690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488690T>C , CM000679.2:g.63488690T>C	GRCh38
NC_000017.10:g.61566051T>C , CM000679.1:g.61566051T>C	GRCh37
NC_000017.9:g.58919783T>C	NCBI36
NG_011648.1:g.16618T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2348T>C MANE Select	ENSP00000290866.4:p.Leu783Pro
ENST00000290863.10:c.626T>C	ENSP00000290863.6:p.Leu209Pro
ENST00000290866.9:c.2348T>C	ENSP00000290866.4:p.Leu783Pro
ENST00000413513.7:c.626T>C	ENSP00000392247.3:p.Leu209Pro
ENST00000428043.5:c.2348T>C	ENSP00000397593.2:p.Leu783Pro
ENST00000577647.2:c.626T>C	ENSP00000464149.1:p.Leu209Pro
ENST00000578839.5:c.*418T>C	ENSP00000462110.2:n.*418T>C
ENST00000579204.1:c.607T>C	ENSP00000464629.1:n.607T>C
ENST00000579314.5:c.*77T>C	ENSP00000462599.1:n.*77T>C
ENST00000582005.5:c.*268T>C	ENSP00000462002.1:n.*268T>C
ENST00000582761.1:c.116T>C	ENSP00000462909.1:p.Leu39Pro
ENST00000584865.5:n.294T>C
NM_000789.3:c.2348T>C	NP_000780.1:p.Leu783Pro
NM_001178057.1:c.626T>C	NP_001171528.1:p.Leu209Pro
NM_152830.2:c.626T>C	NP_690043.1:p.Leu209Pro
XM_005257110.1:c.1799T>C	XP_005257167.1:p.Leu600Pro
XM_006721737.2:c.686T>C	XP_006721800.2:p.Leu229Pro
XM_006721737.3:c.686T>C	XP_006721800.2:p.Leu229Pro
NM_000789.4:c.2348T>C MANE Select	NP_000780.1:p.Leu783Pro
NM_001178057.2:c.626T>C	NP_001171528.1:p.Leu209Pro
NM_152830.3:c.626T>C	NP_690043.1:p.Leu209Pro
NM_001382700.1:c.1781T>C	NP_001369629.1:p.Leu594Pro
NM_001382701.1:c.1496T>C	NP_001369630.1:p.Leu499Pro
NM_001382702.1:c.278T>C	NP_001369631.1:p.Leu93Pro
NR_168483.1:n.726T>C