Canonical Allele Identifier: CA15495087
Gene: ELMO1 HGNC NCBI

Linked Data

dbSNP Id: rs741301
gnomAD v2: 7-36917995-C-T
gnomAD v3: 7-36878390-C-T
gnomAD v4: 7-36878390-C-T
MyVariant Identifiers: chr7:g.36917995C>T (hg19) chr7:g.36878390C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.36878390C>T , CM000669.2:g.36878390C>T GRCh38
NC_000007.13:g.36917995C>T , CM000669.1:g.36917995C>T GRCh37
NC_000007.12:g.36884520C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000310758.9:c.1715-273G>A MANE Select ENSP00000312185.4:n.1715-273G>A
ENST00000310758.8:c.1715-273G>A ENSP00000312185.4:n.1715-273G>A
ENST00000396040.6:c.275-273G>A ENSP00000379355.2:n.275-273G>A
ENST00000396045.7:c.275-273G>A ENSP00000379360.3:n.275-273G>A
ENST00000442504.5:c.1715-273G>A ENSP00000406952.1:n.1715-273G>A
ENST00000448602.5:c.1715-273G>A ENSP00000394458.1:n.1715-273G>A
ENST00000464262.6:n.359-273G>A
ENST00000487843.1:n.236+16619G>A
NM_001039459.2:c.275-273G>A NP_001034548.1:n.275-273G>A
NM_001206480.2:c.1715-273G>A NP_001193409.1:n.1715-273G>A
NM_001206482.1:c.1715-273G>A NP_001193411.1:n.1715-273G>A
NM_014800.10:c.1715-273G>A NP_055615.8:n.1715-273G>A
NM_130442.3:c.275-273G>A NP_569709.1:n.275-273G>A
NR_038120.1:n.509-273G>A
XM_005249919.1:c.1715-273G>A XP_005249976.1:n.1715-273G>A
XM_006715805.1:c.1715-273G>A XP_006715868.1:n.1715-273G>A
XM_011515654.1:c.1715-273G>A XP_011513956.1:n.1715-273G>A
XM_011515655.1:c.1602-273G>A XP_011513957.1:n.1602-273G>A
XM_005249919.3:c.1715-273G>A XP_005249976.1:n.1715-273G>A
XM_011515654.2:c.1715-273G>A XP_011513956.1:n.1715-273G>A
XM_017012839.1:c.1715-273G>A XP_016868328.1:n.1715-273G>A
XM_024447008.1:c.1715-273G>A XP_024302776.1:n.1715-273G>A
XR_001744894.2:n.1951-273G>A
NM_001039459.3:c.275-273G>A NP_001034548.1:n.275-273G>A
NM_001206482.2:c.1715-273G>A NP_001193411.1:n.1715-273G>A
NM_014800.11:c.1715-273G>A MANE Select NP_055615.8:n.1715-273G>A
NM_130442.4:c.275-273G>A NP_569709.1:n.275-273G>A
NR_038120.2:n.376-273G>A
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