Canonical Allele Identifier: CA400557822

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566026G>C (hg19) ; chr17:g.63488665G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488665G>C , CM000679.2:g.63488665G>C	GRCh38
NC_000017.10:g.61566026G>C , CM000679.1:g.61566026G>C	GRCh37
NC_000017.9:g.58919758G>C	NCBI36
NG_011648.1:g.16593G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2323G>C MANE Select	ENSP00000290866.4:p.Ala775Pro
ENST00000290863.10:c.601G>C	ENSP00000290863.6:p.Ala201Pro
ENST00000290866.9:c.2323G>C	ENSP00000290866.4:p.Ala775Pro
ENST00000413513.7:c.601G>C	ENSP00000392247.3:p.Ala201Pro
ENST00000428043.5:c.2323G>C	ENSP00000397593.2:p.Ala775Pro
ENST00000577647.2:c.601G>C	ENSP00000464149.1:p.Ala201Pro
ENST00000578839.5:c.*393G>C	ENSP00000462110.2:n.*393G>C
ENST00000579204.1:c.582G>C	ENSP00000464629.1:n.582G>C
ENST00000579314.5:c.*52G>C	ENSP00000462599.1:n.*52G>C
ENST00000582005.5:c.*243G>C	ENSP00000462002.1:n.*243G>C
ENST00000582761.1:c.91G>C	ENSP00000462909.1:p.Ala31Pro
ENST00000584865.5:n.269G>C
NM_000789.3:c.2323G>C	NP_000780.1:p.Ala775Pro
NM_001178057.1:c.601G>C	NP_001171528.1:p.Ala201Pro
NM_152830.2:c.601G>C	NP_690043.1:p.Ala201Pro
XM_005257110.1:c.1774G>C	XP_005257167.1:p.Ala592Pro
XM_006721737.2:c.661G>C	XP_006721800.2:p.Ala221Pro
XM_006721737.3:c.661G>C	XP_006721800.2:p.Ala221Pro
NM_000789.4:c.2323G>C MANE Select	NP_000780.1:p.Ala775Pro
NM_001178057.2:c.601G>C	NP_001171528.1:p.Ala201Pro
NM_152830.3:c.601G>C	NP_690043.1:p.Ala201Pro
NM_001382700.1:c.1756G>C	NP_001369629.1:p.Ala586Pro
NM_001382701.1:c.1471G>C	NP_001369630.1:p.Ala491Pro
NM_001382702.1:c.253G>C	NP_001369631.1:p.Ala85Pro
NR_168483.1:n.701G>C