Canonical Allele Identifier: CA12630895

Gene: ELMO1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.37339426A>G , CM000669.2:g.37339426A>G	GRCh38
NC_000007.13:g.37379030A>G , CM000669.1:g.37379030A>G	GRCh37
NC_000007.12:g.37345555A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_014800.11:c.78+3187T>C MANE Select	NP_055615.8:n.78+3187T>C
ENST00000310758.9:c.78+3187T>C MANE Select	ENSP00000312185.4:n.78+3187T>C
NM_001206480.2:c.78+3187T>C	NP_001193409.1:n.78+3187T>C
NM_001206482.1:c.78+3187T>C	NP_001193411.1:n.78+3187T>C
NM_001206482.2:c.78+3187T>C	NP_001193411.1:n.78+3187T>C
NM_014800.10:c.78+3187T>C	NP_055615.8:n.78+3187T>C
ENST00000310758.8:c.78+3187T>C	ENSP00000312185.4:n.78+3187T>C
ENST00000442504.5:c.78+3187T>C	ENSP00000406952.1:n.78+3187T>C
ENST00000445322.1:c.78+3187T>C	ENSP00000397857.1:n.78+3187T>C
ENST00000448602.5:c.78+3187T>C	ENSP00000394458.1:n.78+3187T>C
ENST00000453399.5:c.78+3187T>C	ENSP00000391734.1:n.78+3187T>C
ENST00000455119.5:c.78+3187T>C	ENSP00000406610.1:n.78+3187T>C
ENST00000455879.5:c.78+3187T>C	ENSP00000416090.1:n.78+3187T>C
ENST00000463390.1:n.333+3187T>C
XM_005249919.1:c.78+3187T>C	XP_005249976.1:n.78+3187T>C
XM_005249919.3:c.78+3187T>C	XP_005249976.1:n.78+3187T>C
XM_006715805.1:c.78+3187T>C	XP_006715868.1:n.78+3187T>C
XM_011515654.1:c.78+3187T>C	XP_011513956.1:n.78+3187T>C
XM_011515654.2:c.78+3187T>C	XP_011513956.1:n.78+3187T>C
XM_011515655.1:c.78+3187T>C	XP_011513957.1:n.78+3187T>C
XM_017012839.1:c.78+3187T>C	XP_016868328.1:n.78+3187T>C
XM_024447008.1:c.78+3187T>C	XP_024302776.1:n.78+3187T>C
XR_001744894.2:n.427+3187T>C