Canonical Allele Identifier: CA12560050
Gene: ELMO1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.36916236G>A , CM000669.2:g.36916236G>A GRCh38
NC_000007.13:g.36955841G>A , CM000669.1:g.36955841G>A GRCh37
NC_000007.12:g.36922366G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000310758.9:c.1438-21219C>T MANE Select ENSP00000312185.4:n.1438-21219C>T
ENST00000310758.8:c.1438-21219C>T ENSP00000312185.4:n.1438-21219C>T
ENST00000396040.6:c.-3-21219C>T ENSP00000379355.2:n.-3-21219C>T
ENST00000396045.7:c.-3-21219C>T ENSP00000379360.3:n.-3-21219C>T
ENST00000420636.5:c.718-21219C>T ENSP00000396465.1:n.718-21219C>T
ENST00000442504.5:c.1438-21219C>T ENSP00000406952.1:n.1438-21219C>T
ENST00000448602.5:c.1438-21219C>T ENSP00000394458.1:n.1438-21219C>T
ENST00000464262.6:n.195-21219C>T
ENST00000472359.1:n.475-21219C>T
ENST00000487843.1:n.228-21219C>T
NM_001039459.2:c.-3-21219C>T NP_001034548.1:n.-3-21219C>T
NM_001206480.2:c.1438-21219C>T NP_001193409.1:n.1438-21219C>T
NM_001206482.1:c.1438-21219C>T NP_001193411.1:n.1438-21219C>T
NM_014800.10:c.1438-21219C>T NP_055615.8:n.1438-21219C>T
NM_130442.3:c.-3-21219C>T NP_569709.1:n.-3-21219C>T
NR_038120.1:n.345-21219C>T
XM_005249919.1:c.1438-21219C>T XP_005249976.1:n.1438-21219C>T
XM_006715805.1:c.1438-21219C>T XP_006715868.1:n.1438-21219C>T
XM_011515654.1:c.1438-21219C>T XP_011513956.1:n.1438-21219C>T
XM_011515655.1:c.1438-21219C>T XP_011513957.1:n.1438-21219C>T
XM_005249919.3:c.1438-21219C>T XP_005249976.1:n.1438-21219C>T
XM_011515654.2:c.1438-21219C>T XP_011513956.1:n.1438-21219C>T
XM_017012839.1:c.1438-21219C>T XP_016868328.1:n.1438-21219C>T
XM_024447008.1:c.1438-21219C>T XP_024302776.1:n.1438-21219C>T
XR_001744894.2:n.1787-21219C>T
NM_001039459.3:c.-3-21219C>T NP_001034548.1:n.-3-21219C>T
NM_001206482.2:c.1438-21219C>T NP_001193411.1:n.1438-21219C>T
NM_014800.11:c.1438-21219C>T MANE Select NP_055615.8:n.1438-21219C>T
NM_130442.4:c.-3-21219C>T NP_569709.1:n.-3-21219C>T
NR_038120.2:n.212-21219C>T
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