Canonical Allele Identifier: CA347028096

Gene: EFEMP1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55870851A>G , CM000664.2:g.55870851A>G	GRCh38
NC_000002.11:g.56097986A>G , CM000664.1:g.56097986A>G	GRCh37
NC_000002.10:g.55951490A>G	NCBI36
NG_009098.1:g.57947T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001039348.3:c.1189T>C MANE Select	NP_001034437.1:p.Tyr397His
ENST00000355426.8:c.1189T>C MANE Select	ENSP00000347596.3:p.Tyr397His
NM_001039348.2:c.1189T>C	NP_001034437.1:p.Tyr397His
NM_001039349.2:c.1189T>C	NP_001034438.1:p.Tyr397His
NM_001039349.3:c.1189T>C	NP_001034438.1:p.Tyr397His
ENST00000355426.7:c.1189T>C	ENSP00000347596.3:p.Tyr397His
ENST00000394555.6:c.1189T>C	ENSP00000378058.2:p.Tyr397His
ENST00000634374.1:c.548T>C
ENST00000635671.1:c.*841T>C	ENSP00000489578.1:n.*841T>C
XM_005264205.3:c.1339T>C	XP_005264262.1:p.Tyr447His
XM_005264205.4:c.1339T>C	XP_005264262.1:p.Tyr447His
XM_017003586.2:c.949T>C	XP_016859075.1:p.Tyr317His
XM_024452755.1:c.1189T>C	XP_024308523.1:p.Tyr397His
XM_024452756.1:c.1189T>C	XP_024308524.1:p.Tyr397His
XM_024452757.1:c.949T>C	XP_024308525.1:p.Tyr317His
XR_002959388.1:n.229-3032A>G
XR_940108.1:n.229-3032A>G