Canonical Allele Identifier: CA400558191

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61566336G>T (hg19) ; chr17:g.63488975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488975G>T , CM000679.2:g.63488975G>T	GRCh38
NC_000017.10:g.61566336G>T , CM000679.1:g.61566336G>T	GRCh37
NC_000017.9:g.58920068G>T	NCBI36
NG_011648.1:g.16903G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2484G>T MANE Select	ENSP00000290866.4:p.Met828Ile
ENST00000290863.10:c.762G>T	ENSP00000290863.6:p.Met254Ile
ENST00000290866.9:c.2484G>T	ENSP00000290866.4:p.Met828Ile
ENST00000413513.7:c.762G>T	ENSP00000392247.3:p.Met254Ile
ENST00000428043.5:c.2484G>T	ENSP00000397593.2:p.Met828Ile
ENST00000577647.2:c.762G>T	ENSP00000464149.1:p.Met254Ile
ENST00000578839.5:c.*519+184G>T	ENSP00000462110.2:n.*519+184G>T
ENST00000579204.1:c.743G>T	ENSP00000464629.1:n.743G>T
ENST00000579314.5:c.*213G>T	ENSP00000462599.1:n.*213G>T
ENST00000582005.5:c.*404G>T	ENSP00000462002.1:n.*404G>T
ENST00000582761.1:c.252G>T	ENSP00000462909.1:p.Met84Ile
ENST00000584865.5:n.430G>T
NM_000789.3:c.2484G>T	NP_000780.1:p.Met828Ile
NM_001178057.1:c.762G>T	NP_001171528.1:p.Met254Ile
NM_152830.2:c.762G>T	NP_690043.1:p.Met254Ile
XM_005257110.1:c.1935G>T	XP_005257167.1:p.Met645Ile
XM_006721737.2:c.822G>T	XP_006721800.2:p.Met274Ile
XM_006721737.3:c.822G>T	XP_006721800.2:p.Met274Ile
NM_000789.4:c.2484G>T MANE Select	NP_000780.1:p.Met828Ile
NM_001178057.2:c.762G>T	NP_001171528.1:p.Met254Ile
NM_152830.3:c.762G>T	NP_690043.1:p.Met254Ile
NM_001382700.1:c.1917G>T	NP_001369629.1:p.Met639Ile
NM_001382701.1:c.1632G>T	NP_001369630.1:p.Met544Ile
NM_001382702.1:c.379+184G>T	NP_001369631.1:n.379+184G>T
NR_168483.1:n.862G>T