Canonical Allele Identifier: CA574077192

Gene: ELMO1

Linked Data

• dbSNP Id: rs1484482954
• gnomAD v2: 7-36918048-T-G
• gnomAD v3: 7-36878443-T-G
• gnomAD v4: 7-36878443-T-G
• MyVariant Identifiers: chr7:g.36918048T>G (hg19) ; chr7:g.36878443T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.36878443T>G , CM000669.2:g.36878443T>G	GRCh38
NC_000007.13:g.36918048T>G , CM000669.1:g.36918048T>G	GRCh37
NC_000007.12:g.36884573T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310758.9:c.1715-326A>C MANE Select	ENSP00000312185.4:n.1715-326A>C
ENST00000310758.8:c.1715-326A>C	ENSP00000312185.4:n.1715-326A>C
ENST00000396040.6:c.275-326A>C	ENSP00000379355.2:n.275-326A>C
ENST00000396045.7:c.275-326A>C	ENSP00000379360.3:n.275-326A>C
ENST00000442504.5:c.1715-326A>C	ENSP00000406952.1:n.1715-326A>C
ENST00000448602.5:c.1715-326A>C	ENSP00000394458.1:n.1715-326A>C
ENST00000464262.6:n.359-326A>C
ENST00000487843.1:n.236+16566A>C
NM_001039459.2:c.275-326A>C	NP_001034548.1:n.275-326A>C
NM_001206480.2:c.1715-326A>C	NP_001193409.1:n.1715-326A>C
NM_001206482.1:c.1715-326A>C	NP_001193411.1:n.1715-326A>C
NM_014800.10:c.1715-326A>C	NP_055615.8:n.1715-326A>C
NM_130442.3:c.275-326A>C	NP_569709.1:n.275-326A>C
NR_038120.1:n.509-326A>C
XM_005249919.1:c.1715-326A>C	XP_005249976.1:n.1715-326A>C
XM_006715805.1:c.1715-326A>C	XP_006715868.1:n.1715-326A>C
XM_011515654.1:c.1715-326A>C	XP_011513956.1:n.1715-326A>C
XM_011515655.1:c.1602-326A>C	XP_011513957.1:n.1602-326A>C
XM_005249919.3:c.1715-326A>C	XP_005249976.1:n.1715-326A>C
XM_011515654.2:c.1715-326A>C	XP_011513956.1:n.1715-326A>C
XM_017012839.1:c.1715-326A>C	XP_016868328.1:n.1715-326A>C
XM_024447008.1:c.1715-326A>C	XP_024302776.1:n.1715-326A>C
XR_001744894.2:n.1951-326A>C
NM_001039459.3:c.275-326A>C	NP_001034548.1:n.275-326A>C
NM_001206482.2:c.1715-326A>C	NP_001193411.1:n.1715-326A>C
NM_014800.11:c.1715-326A>C MANE Select	NP_055615.8:n.1715-326A>C
NM_130442.4:c.275-326A>C	NP_569709.1:n.275-326A>C
NR_038120.2:n.376-326A>C