Canonical Allele Identifier: CA400566497

Gene: ACE

Linked Data

• gnomAD v4: 17-63496800-C-T
• MyVariant Identifiers: chr17:g.61574161C>T (hg19) ; chr17:g.63496800C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63496800C>T , CM000679.2:g.63496800C>T	GRCh38
NC_000017.10:g.61574161C>T , CM000679.1:g.61574161C>T	GRCh37
NC_000017.9:g.58927893C>T	NCBI36
NG_011648.1:g.24728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.3506C>T MANE Select	ENSP00000290866.4:p.Thr1169Ile
ENST00000290863.10:c.1784C>T	ENSP00000290863.6:p.Thr595Ile
ENST00000290866.9:c.3506C>T	ENSP00000290866.4:p.Thr1169Ile
ENST00000413513.7:c.1661C>T	ENSP00000392247.3:p.Thr554Ile
ENST00000428043.5:c.3506C>T	ENSP00000397593.2:p.Thr1169Ile
ENST00000577418.5:n.516C>T
ENST00000577647.2:c.1784C>T	ENSP00000464149.1:p.Thr595Ile
ENST00000578839.5:c.*1261C>T	ENSP00000462110.2:n.*1261C>T
ENST00000579314.5:c.*1235C>T	ENSP00000462599.1:n.*1235C>T
ENST00000579409.1:c.193C>T
ENST00000582244.1:n.380C>T
NM_000789.3:c.3506C>T	NP_000780.1:p.Thr1169Ile
NM_001178057.1:c.1661C>T	NP_001171528.1:p.Thr554Ile
NM_152830.2:c.1784C>T	NP_690043.1:p.Thr595Ile
XM_005257110.1:c.2957C>T	XP_005257167.1:p.Thr986Ile
XM_006721737.2:c.1844C>T	XP_006721800.2:p.Thr615Ile
XM_006721737.3:c.1844C>T	XP_006721800.2:p.Thr615Ile
NM_000789.4:c.3506C>T MANE Select	NP_000780.1:p.Thr1169Ile
NM_001178057.2:c.1661C>T	NP_001171528.1:p.Thr554Ile
NM_152830.3:c.1784C>T	NP_690043.1:p.Thr595Ile
NM_001382700.1:c.2939C>T	NP_001369629.1:p.Thr980Ile
NM_001382701.1:c.2654C>T	NP_001369630.1:p.Thr885Ile
NM_001382702.1:c.1121C>T	NP_001369631.1:p.Thr374Ile
NR_168483.1:n.1884C>T