Canonical Allele Identifier: CA1252513796

Gene: EFEMP1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55885305C>T , CM000664.2:g.55885305C>T	GRCh38
NC_000002.11:g.56112440C>T , CM000664.1:g.56112440C>T	GRCh37
NC_000002.10:g.55965944C>T	NCBI36
NG_009098.1:g.43493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355426.8:c.518-3571G>A MANE Select	ENSP00000347596.3:n.518-3571G>A
ENST00000355426.7:c.518-3571G>A	ENSP00000347596.3:n.518-3571G>A
ENST00000394555.6:c.518-3571G>A	ENSP00000378058.2:n.518-3571G>A
ENST00000634374.1:c.117-3571G>A
ENST00000635671.1:c.*410-3571G>A	ENSP00000489578.1:n.*410-3571G>A
NM_001039348.2:c.518-3571G>A	NP_001034437.1:n.518-3571G>A
NM_001039349.2:c.518-3571G>A	NP_001034438.1:n.518-3571G>A
XM_005264205.3:c.908-3571G>A	XP_005264262.1:n.908-3571G>A
XM_005264205.4:c.908-3571G>A	XP_005264262.1:n.908-3571G>A
XM_017003586.2:c.518-3571G>A	XP_016859075.1:n.518-3571G>A
XM_024452755.1:c.518-3571G>A	XP_024308523.1:n.518-3571G>A
XM_024452756.1:c.518-3571G>A	XP_024308524.1:n.518-3571G>A
XM_024452757.1:c.518-3571G>A	XP_024308525.1:n.518-3571G>A
NM_001039348.3:c.518-3571G>A MANE Select	NP_001034437.1:n.518-3571G>A
NM_001039349.3:c.518-3571G>A	NP_001034438.1:n.518-3571G>A