Canonical Allele Identifier: CA157436595

Gene: ELMO1

Linked Data

• dbSNP Id: rs1015265160
• gnomAD v3: 7-37173887-C-T
• gnomAD v4: 7-37173887-C-T
• MyVariant Identifiers: chr7:g.37213492C>T (hg19) ; chr7:g.37173887C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37173887C>T , CM000669.2:g.37173887C>T	GRCh38
NC_000007.13:g.37213492C>T , CM000669.1:g.37213492C>T	GRCh37
NC_000007.12:g.37180017C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310758.9:c.1086+37499G>A MANE Select	ENSP00000312185.4:n.1086+37499G>A
ENST00000310758.8:c.1086+37499G>A	ENSP00000312185.4:n.1086+37499G>A
ENST00000420636.5:c.300+37499G>A	ENSP00000396465.1:n.300+37499G>A
ENST00000433246.5:c.425+37499G>A
ENST00000442504.5:c.1086+37499G>A	ENSP00000406952.1:n.1086+37499G>A
ENST00000448602.5:c.1086+37499G>A	ENSP00000394458.1:n.1086+37499G>A
ENST00000472359.1:n.123+23214G>A
ENST00000487336.1:n.426+37499G>A
NM_001206480.2:c.1086+37499G>A	NP_001193409.1:n.1086+37499G>A
NM_001206482.1:c.1086+37499G>A	NP_001193411.1:n.1086+37499G>A
NM_014800.10:c.1086+37499G>A	NP_055615.8:n.1086+37499G>A
XM_005249919.1:c.1086+37499G>A	XP_005249976.1:n.1086+37499G>A
XM_006715805.1:c.1086+37499G>A	XP_006715868.1:n.1086+37499G>A
XM_011515654.1:c.1086+37499G>A	XP_011513956.1:n.1086+37499G>A
XM_011515655.1:c.1086+37499G>A	XP_011513957.1:n.1086+37499G>A
XM_005249919.3:c.1086+37499G>A	XP_005249976.1:n.1086+37499G>A
XM_011515654.2:c.1086+37499G>A	XP_011513956.1:n.1086+37499G>A
XM_017012839.1:c.1086+37499G>A	XP_016868328.1:n.1086+37499G>A
XM_024447008.1:c.1086+37499G>A	XP_024302776.1:n.1086+37499G>A
XR_001744894.2:n.1435+37499G>A
NM_001206482.2:c.1086+37499G>A	NP_001193411.1:n.1086+37499G>A
NM_014800.11:c.1086+37499G>A MANE Select	NP_055615.8:n.1086+37499G>A