Canonical Allele Identifier: CA339254647

Gene: ECE1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21220008G>T , CM000663.2:g.21220008G>T	GRCh38
NC_000001.10:g.21546501G>T , CM000663.1:g.21546501G>T	GRCh37
NC_000001.9:g.21419088G>T	NCBI36
NG_013008.1:g.130534C>A
NG_013008.2:g.130534C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374893.11:c.2260C>A MANE Select	ENSP00000364028.6:p.Arg754Ser
ENST00000649812.1:c.2212C>A	ENSP00000497333.1:p.Arg738Ser
ENST00000264205.10:c.2251C>A	ENSP00000264205.6:p.Arg751Ser
ENST00000357071.8:c.2224C>A	ENSP00000349581.4:p.Arg742Ser
ENST00000374893.10:c.2260C>A	ENSP00000364028.6:p.Arg754Ser
ENST00000415912.6:c.2212C>A	ENSP00000405088.2:p.Arg738Ser
ENST00000436918.6:c.2164C>A	ENSP00000388439.2:p.Arg722Ser
ENST00000531334.1:n.459C>A
NM_001113347.1:c.2224C>A	NP_001106818.1:p.Arg742Ser
NM_001113348.1:c.2212C>A	NP_001106819.1:p.Arg738Ser
NM_001113349.1:c.2251C>A	NP_001106820.1:p.Arg751Ser
NM_001397.2:c.2260C>A	NP_001388.1:p.Arg754Ser
XM_006710398.1:c.2209C>A	XP_006710461.1:p.Arg737Ser
XM_011540872.1:c.2284C>A	XP_011539174.1:p.Arg762Ser
XM_011540873.1:c.2209C>A	XP_011539175.1:p.Arg737Ser
XM_006710398.2:c.2209C>A	XP_006710461.1:p.Arg737Ser
XM_011540872.2:c.2284C>A	XP_011539174.1:p.Arg762Ser
XM_011540873.2:c.2209C>A	XP_011539175.1:p.Arg737Ser
NM_001397.3:c.2260C>A MANE Select	NP_001388.1:p.Arg754Ser
NM_001113347.2:c.2224C>A	NP_001106818.1:p.Arg742Ser
NM_001113348.2:c.2212C>A	NP_001106819.1:p.Arg738Ser
NM_001113349.2:c.2251C>A	NP_001106820.1:p.Arg751Ser