Canonical Allele Identifier: CA8700137

Gene: ACE

Linked Data

• dbSNP Id: rs761838241
• ExAC: 17:61566347 C / T
• gnomAD v2: 17-61566347-C-T
• gnomAD v4: 17-63488986-C-T
• MyVariant Identifiers: chr17:g.61566347C>T (hg19) ; chr17:g.63488986C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488986C>T , CM000679.2:g.63488986C>T	GRCh38
NC_000017.10:g.61566347C>T , CM000679.1:g.61566347C>T	GRCh37
NC_000017.9:g.58920079C>T	NCBI36
NG_011648.1:g.16914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2495C>T MANE Select	ENSP00000290866.4:p.Pro832Leu
ENST00000290863.10:c.773C>T	ENSP00000290863.6:p.Pro258Leu
ENST00000290866.9:c.2495C>T	ENSP00000290866.4:p.Pro832Leu
ENST00000413513.7:c.773C>T	ENSP00000392247.3:p.Pro258Leu
ENST00000428043.5:c.2495C>T	ENSP00000397593.2:p.Pro832Leu
ENST00000577647.2:c.773C>T	ENSP00000464149.1:p.Pro258Leu
ENST00000578839.5:c.*519+195C>T	ENSP00000462110.2:n.*519+195C>T
ENST00000579204.1:c.754C>T	ENSP00000464629.1:n.754C>T
ENST00000579314.5:c.*224C>T	ENSP00000462599.1:n.*224C>T
ENST00000582005.5:c.*415C>T	ENSP00000462002.1:n.*415C>T
ENST00000582761.1:c.263C>T	ENSP00000462909.1:p.Pro88Leu
ENST00000584865.5:n.441C>T
NM_000789.3:c.2495C>T	NP_000780.1:p.Pro832Leu
NM_001178057.1:c.773C>T	NP_001171528.1:p.Pro258Leu
NM_152830.2:c.773C>T	NP_690043.1:p.Pro258Leu
XM_005257110.1:c.1946C>T	XP_005257167.1:p.Pro649Leu
XM_006721737.2:c.833C>T	XP_006721800.2:p.Pro278Leu
XM_006721737.3:c.833C>T	XP_006721800.2:p.Pro278Leu
NM_000789.4:c.2495C>T MANE Select	NP_000780.1:p.Pro832Leu
NM_001178057.2:c.773C>T	NP_001171528.1:p.Pro258Leu
NM_152830.3:c.773C>T	NP_690043.1:p.Pro258Leu
NM_001382700.1:c.1928C>T	NP_001369629.1:p.Pro643Leu
NM_001382701.1:c.1643C>T	NP_001369630.1:p.Pro548Leu
NM_001382702.1:c.379+195C>T	NP_001369631.1:n.379+195C>T
NR_168483.1:n.873C>T