Canonical Allele Identifier: CA400558038

Gene: ACE

Linked Data

• gnomAD v4: 17-63488765-T-C
• MyVariant Identifiers: chr17:g.61566126T>C (hg19) ; chr17:g.63488765T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488765T>C , CM000679.2:g.63488765T>C	GRCh38
NC_000017.10:g.61566126T>C , CM000679.1:g.61566126T>C	GRCh37
NC_000017.9:g.58919858T>C	NCBI36
NG_011648.1:g.16693T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2423T>C MANE Select	ENSP00000290866.4:p.Leu808Pro
ENST00000290863.10:c.701T>C	ENSP00000290863.6:p.Leu234Pro
ENST00000290866.9:c.2423T>C	ENSP00000290866.4:p.Leu808Pro
ENST00000413513.7:c.701T>C	ENSP00000392247.3:p.Leu234Pro
ENST00000428043.5:c.2423T>C	ENSP00000397593.2:p.Leu808Pro
ENST00000577647.2:c.701T>C	ENSP00000464149.1:p.Leu234Pro
ENST00000578839.5:c.*493T>C	ENSP00000462110.2:n.*493T>C
ENST00000579204.1:c.682T>C	ENSP00000464629.1:n.682T>C
ENST00000579314.5:c.*152T>C	ENSP00000462599.1:n.*152T>C
ENST00000582005.5:c.*343T>C	ENSP00000462002.1:n.*343T>C
ENST00000582761.1:c.191T>C	ENSP00000462909.1:p.Leu64Pro
ENST00000584865.5:n.369T>C
NM_000789.3:c.2423T>C	NP_000780.1:p.Leu808Pro
NM_001178057.1:c.701T>C	NP_001171528.1:p.Leu234Pro
NM_152830.2:c.701T>C	NP_690043.1:p.Leu234Pro
XM_005257110.1:c.1874T>C	XP_005257167.1:p.Leu625Pro
XM_006721737.2:c.761T>C	XP_006721800.2:p.Leu254Pro
XM_006721737.3:c.761T>C	XP_006721800.2:p.Leu254Pro
NM_000789.4:c.2423T>C MANE Select	NP_000780.1:p.Leu808Pro
NM_001178057.2:c.701T>C	NP_001171528.1:p.Leu234Pro
NM_152830.3:c.701T>C	NP_690043.1:p.Leu234Pro
NM_001382700.1:c.1856T>C	NP_001369629.1:p.Leu619Pro
NM_001382701.1:c.1571T>C	NP_001369630.1:p.Leu524Pro
NM_001382702.1:c.353T>C	NP_001369631.1:p.Leu118Pro
NR_168483.1:n.801T>C