Canonical Allele Identifier: CA347029486

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55881637A>T , CM000664.2:g.55881637A>T	GRCh38
NC_000002.11:g.56108772A>T , CM000664.1:g.56108772A>T	GRCh37
NC_000002.10:g.55962276A>T	NCBI36
NG_009098.1:g.47161T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.3:c.615T>A MANE Select	NP_001034437.1:p.Tyr205Ter
ENST00000355426.8:c.615T>A MANE Select	ENSP00000347596.3:p.Tyr205Ter
NM_001039348.2:c.615T>A	NP_001034437.1:p.Tyr205Ter
NM_001039349.2:c.615T>A	NP_001034438.1:p.Tyr205Ter
NM_001039349.3:c.615T>A	NP_001034438.1:p.Tyr205Ter
ENST00000355426.7:c.615T>A	ENSP00000347596.3:p.Tyr205Ter
ENST00000394555.6:c.615T>A	ENSP00000378058.2:p.Tyr205Ter
ENST00000634374.1:c.214T>A
ENST00000635671.1:c.*507T>A	ENSP00000489578.1:n.*507T>A
XM_005264205.3:c.1005T>A	XP_005264262.1:p.Tyr335Ter
XM_005264205.4:c.1005T>A	XP_005264262.1:p.Tyr335Ter
XM_017003586.2:c.615T>A	XP_016859075.1:p.Tyr205Ter
XM_024452755.1:c.615T>A	XP_024308523.1:p.Tyr205Ter
XM_024452756.1:c.615T>A	XP_024308524.1:p.Tyr205Ter
XM_024452757.1:c.615T>A	XP_024308525.1:p.Tyr205Ter