Canonical Allele Identifier: CA1700330406

Gene: ELMO1

Linked Data

• dbSNP Id: rs1804137122

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.36878326G>A , CM000669.2:g.36878326G>A	GRCh38
NC_000007.13:g.36917931G>A , CM000669.1:g.36917931G>A	GRCh37
NC_000007.12:g.36884456G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310758.9:c.1715-209C>T MANE Select	ENSP00000312185.4:n.1715-209C>T
ENST00000310758.8:c.1715-209C>T	ENSP00000312185.4:n.1715-209C>T
ENST00000396040.6:c.275-209C>T	ENSP00000379355.2:n.275-209C>T
ENST00000396045.7:c.275-209C>T	ENSP00000379360.3:n.275-209C>T
ENST00000442504.5:c.1715-209C>T	ENSP00000406952.1:n.1715-209C>T
ENST00000448602.5:c.1715-209C>T	ENSP00000394458.1:n.1715-209C>T
ENST00000464262.6:n.359-209C>T
ENST00000487843.1:n.237-16590C>T
NM_001039459.2:c.275-209C>T	NP_001034548.1:n.275-209C>T
NM_001206480.2:c.1715-209C>T	NP_001193409.1:n.1715-209C>T
NM_001206482.1:c.1715-209C>T	NP_001193411.1:n.1715-209C>T
NM_014800.10:c.1715-209C>T	NP_055615.8:n.1715-209C>T
NM_130442.3:c.275-209C>T	NP_569709.1:n.275-209C>T
NR_038120.1:n.509-209C>T
XM_005249919.1:c.1715-209C>T	XP_005249976.1:n.1715-209C>T
XM_006715805.1:c.1715-209C>T	XP_006715868.1:n.1715-209C>T
XM_011515654.1:c.1715-209C>T	XP_011513956.1:n.1715-209C>T
XM_011515655.1:c.1602-209C>T	XP_011513957.1:n.1602-209C>T
XM_005249919.3:c.1715-209C>T	XP_005249976.1:n.1715-209C>T
XM_011515654.2:c.1715-209C>T	XP_011513956.1:n.1715-209C>T
XM_017012839.1:c.1715-209C>T	XP_016868328.1:n.1715-209C>T
XM_024447008.1:c.1715-209C>T	XP_024302776.1:n.1715-209C>T
XR_001744894.2:n.1951-209C>T
NM_001039459.3:c.275-209C>T	NP_001034548.1:n.275-209C>T
NM_001206482.2:c.1715-209C>T	NP_001193411.1:n.1715-209C>T
NM_014800.11:c.1715-209C>T MANE Select	NP_055615.8:n.1715-209C>T
NM_130442.4:c.275-209C>T	NP_569709.1:n.275-209C>T
NR_038120.2:n.376-209C>T