Canonical Allele Identifier: CA292883514

Gene: ACE

Linked Data

• dbSNP Id: rs935705219
• gnomAD v2: 17-61566146-C-T
• gnomAD v3: 17-63488785-C-T
• gnomAD v4: 17-63488785-C-T
• MyVariant Identifiers: chr17:g.61566146C>T (hg19) ; chr17:g.63488785C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488785C>T , CM000679.2:g.63488785C>T	GRCh38
NC_000017.10:g.61566146C>T , CM000679.1:g.61566146C>T	GRCh37
NC_000017.9:g.58919878C>T	NCBI36
NG_011648.1:g.16713C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2443C>T MANE Select	ENSP00000290866.4:p.Leu815Phe
ENST00000290863.10:c.721C>T	ENSP00000290863.6:p.Leu241Phe
ENST00000290866.9:c.2443C>T	ENSP00000290866.4:p.Leu815Phe
ENST00000413513.7:c.721C>T	ENSP00000392247.3:p.Leu241Phe
ENST00000428043.5:c.2443C>T	ENSP00000397593.2:p.Leu815Phe
ENST00000577647.2:c.721C>T	ENSP00000464149.1:p.Leu241Phe
ENST00000578839.5:c.*513C>T	ENSP00000462110.2:n.*513C>T
ENST00000579204.1:c.702C>T	ENSP00000464629.1:n.702C>T
ENST00000579314.5:c.*172C>T	ENSP00000462599.1:n.*172C>T
ENST00000582005.5:c.*363C>T	ENSP00000462002.1:n.*363C>T
ENST00000582761.1:c.211C>T	ENSP00000462909.1:p.Leu71Phe
ENST00000584865.5:n.389C>T
NM_000789.3:c.2443C>T	NP_000780.1:p.Leu815Phe
NM_001178057.1:c.721C>T	NP_001171528.1:p.Leu241Phe
NM_152830.2:c.721C>T	NP_690043.1:p.Leu241Phe
XM_005257110.1:c.1894C>T	XP_005257167.1:p.Leu632Phe
XM_006721737.2:c.781C>T	XP_006721800.2:p.Leu261Phe
XM_006721737.3:c.781C>T	XP_006721800.2:p.Leu261Phe
NM_000789.4:c.2443C>T MANE Select	NP_000780.1:p.Leu815Phe
NM_001178057.2:c.721C>T	NP_001171528.1:p.Leu241Phe
NM_152830.3:c.721C>T	NP_690043.1:p.Leu241Phe
NM_001382700.1:c.1876C>T	NP_001369629.1:p.Leu626Phe
NM_001382701.1:c.1591C>T	NP_001369630.1:p.Leu531Phe
NM_001382702.1:c.373C>T	NP_001369631.1:p.Leu125Phe
NR_168483.1:n.821C>T