Canonical Allele Identifier: CA400556618

Gene: ACE

Linked Data

• MyVariant Identifiers: chr17:g.61564363T>G (hg19) ; chr17:g.63487002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63487002T>G , CM000679.2:g.63487002T>G	GRCh38
NC_000017.10:g.61564363T>G , CM000679.1:g.61564363T>G	GRCh37
NC_000017.9:g.58918095T>G	NCBI36
NG_011648.1:g.14930T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290866.10:c.2234T>G MANE Select	ENSP00000290866.4:p.Leu745Trp
ENST00000290863.10:c.512T>G	ENSP00000290863.6:p.Leu171Trp
ENST00000290866.9:c.2234T>G	ENSP00000290866.4:p.Leu745Trp
ENST00000413513.7:c.512T>G	ENSP00000392247.3:p.Leu171Trp
ENST00000428043.5:c.2234T>G	ENSP00000397593.2:p.Leu745Trp
ENST00000577647.2:c.512T>G	ENSP00000464149.1:p.Leu171Trp
ENST00000578839.5:c.*304T>G	ENSP00000462110.2:n.*304T>G
ENST00000579204.1:c.415T>G	ENSP00000464629.1:n.415T>G
ENST00000579314.5:c.512T>G	ENSP00000462599.1:p.Leu171Trp
ENST00000579726.5:c.796T>G
ENST00000582005.5:c.*154T>G	ENSP00000462002.1:n.*154T>G
ENST00000582761.1:c.2T>G	ENSP00000462909.1:p.Leu1Trp
ENST00000584865.5:n.180T>G
NM_000789.3:c.2234T>G	NP_000780.1:p.Leu745Trp
NM_001178057.1:c.512T>G	NP_001171528.1:p.Leu171Trp
NM_152830.2:c.512T>G	NP_690043.1:p.Leu171Trp
XM_005257110.1:c.1685T>G	XP_005257167.1:p.Leu562Trp
XM_006721737.2:c.572T>G	XP_006721800.2:p.Leu191Trp
XM_006721737.3:c.572T>G	XP_006721800.2:p.Leu191Trp
NM_000789.4:c.2234T>G MANE Select	NP_000780.1:p.Leu745Trp
NM_001178057.2:c.512T>G	NP_001171528.1:p.Leu171Trp
NM_152830.3:c.512T>G	NP_690043.1:p.Leu171Trp
NM_001382700.1:c.1667T>G	NP_001369629.1:p.Leu556Trp
NM_001382701.1:c.1382T>G	NP_001369630.1:p.Leu461Trp
NM_001382702.1:c.164T>G	NP_001369631.1:p.Leu55Trp
NR_168483.1:n.534T>G