Canonical Allele Identifier: CA1252503617

Gene: EFEMP1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55869757A>T , CM000664.2:g.55869757A>T	GRCh38
NC_000002.11:g.56096892A>T , CM000664.1:g.56096892A>T	GRCh37
NC_000002.10:g.55950396A>T	NCBI36
NG_009098.1:g.59041T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355426.8:c.1320+963T>A MANE Select	ENSP00000347596.3:n.1320+963T>A
ENST00000355426.7:c.1320+963T>A	ENSP00000347596.3:n.1320+963T>A
ENST00000394555.6:c.1320+963T>A	ENSP00000378058.2:n.1320+963T>A
ENST00000634374.1:c.679+963T>A
ENST00000635671.1:c.*972+963T>A	ENSP00000489578.1:n.*972+963T>A
NM_001039348.2:c.1320+963T>A	NP_001034437.1:n.1320+963T>A
NM_001039349.2:c.1320+963T>A	NP_001034438.1:n.1320+963T>A
XM_005264205.3:c.1470+963T>A	XP_005264262.1:n.1470+963T>A
XR_940108.1:n.229-4126A>T
XM_005264205.4:c.1470+963T>A	XP_005264262.1:n.1470+963T>A
XM_017003586.2:c.1080+963T>A	XP_016859075.1:n.1080+963T>A
XM_024452755.1:c.1320+963T>A	XP_024308523.1:n.1320+963T>A
XM_024452756.1:c.1320+963T>A	XP_024308524.1:n.1320+963T>A
XM_024452757.1:c.1080+963T>A	XP_024308525.1:n.1080+963T>A
XR_002959388.1:n.229-4126A>T
NM_001039348.3:c.1320+963T>A MANE Select	NP_001034437.1:n.1320+963T>A
NM_001039349.3:c.1320+963T>A	NP_001034438.1:n.1320+963T>A