Canonical Allele Identifier: CA664971

Gene: ECE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21225324C>T , CM000663.2:g.21225324C>T	GRCh38
NC_000001.10:g.21551817C>T , CM000663.1:g.21551817C>T	GRCh37
NC_000001.9:g.21424404C>T	NCBI36
NG_013008.1:g.125218G>A
NG_013008.2:g.125218G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001397.3:c.1966G>A MANE Select	NP_001388.1:p.Gly656Arg
ENST00000374893.11:c.1966G>A MANE Select	ENSP00000364028.6:p.Gly656Arg
NM_001113347.1:c.1930G>A	NP_001106818.1:p.Gly644Arg
NM_001113347.2:c.1930G>A	NP_001106818.1:p.Gly644Arg
NM_001113348.1:c.1918G>A	NP_001106819.1:p.Gly640Arg
NM_001113348.2:c.1918G>A	NP_001106819.1:p.Gly640Arg
NM_001113349.1:c.1957G>A	NP_001106820.1:p.Gly653Arg
NM_001113349.2:c.1957G>A	NP_001106820.1:p.Gly653Arg
NM_001397.2:c.1966G>A	NP_001388.1:p.Gly656Arg
ENST00000264205.10:c.1957G>A	ENSP00000264205.6:p.Gly653Arg
ENST00000357071.8:c.1930G>A	ENSP00000349581.4:p.Gly644Arg
ENST00000374893.10:c.1966G>A	ENSP00000364028.6:p.Gly656Arg
ENST00000415912.6:c.1918G>A	ENSP00000405088.2:p.Gly640Arg
ENST00000436918.6:c.1966G>A	ENSP00000388439.2:p.Gly656Arg
ENST00000649812.1:c.1918G>A	ENSP00000497333.1:p.Gly640Arg
XM_006710398.1:c.1915G>A	XP_006710461.1:p.Gly639Arg
XM_006710398.2:c.1915G>A	XP_006710461.1:p.Gly639Arg
XM_011540872.1:c.1990G>A	XP_011539174.1:p.Gly664Arg
XM_011540872.2:c.1990G>A	XP_011539174.1:p.Gly664Arg
XM_011540873.1:c.1915G>A	XP_011539175.1:p.Gly639Arg
XM_011540873.2:c.1915G>A	XP_011539175.1:p.Gly639Arg