Canonical Allele Identifier: CA2573054866

Gene: EPB41L1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.36125528G>A , CM000682.2:g.36125528G>A	GRCh38
NC_000020.10:g.34713450G>A , CM000682.1:g.34713450G>A	GRCh37
NC_000020.9:g.34176864G>A	NCBI36
NG_031853.2:g.39025G>A
NG_031853.3:g.39025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202028.9:c.-10+13048G>A	ENSP00000202028.5:n.-10+13048G>A
ENST00000373946.7:c.-15+11729G>A	ENSP00000363057.4:n.-15+11729G>A
ENST00000373950.6:c.-10+3712G>A	ENSP00000363061.2:n.-10+3712G>A
ENST00000406771.6:c.-15+32715G>A	ENSP00000385244.2:n.-15+32715G>A
ENST00000427533.2:c.-15+1G>A	ENSP00000408877.1:n.-15+1G>A
ENST00000430276.5:c.-10+32715G>A	ENSP00000404341.1:n.-10+32715G>A
ENST00000432589.5:c.-10+13048G>A	ENSP00000393106.1:n.-10+13048G>A
ENST00000441639.5:c.-10+13048G>A	ENSP00000399214.1:n.-10+13048G>A
ENST00000447825.5:c.-15+13048G>A	ENSP00000396366.1:n.-15+13048G>A
ENST00000452261.5:c.-15+11729G>A	ENSP00000413262.1:n.-15+11729G>A
ENST00000628415.2:c.84+1G>A	ENSP00000487049.2:n.84+1G>A
NM_001258329.1:c.-15+11729G>A	NP_001245258.1:n.-15+11729G>A
NM_001258330.1:c.84+1G>A	NP_001245259.1:n.84+1G>A
NM_001258331.1:c.-10+13048G>A	NP_001245260.1:n.-10+13048G>A
NM_177996.2:c.-10+13048G>A	NP_818932.1:n.-10+13048G>A
XM_011528667.1:c.252+1G>A	XP_011526969.1:n.252+1G>A
XM_011528670.1:c.-15+2781G>A	XP_011526972.1:n.-15+2781G>A
XM_011528671.1:c.-15+13048G>A	XP_011526973.1:n.-15+13048G>A
XM_011528672.1:c.-15+1G>A	XP_011526974.1:n.-15+1G>A
XM_011528675.1:c.84+1G>A	XP_011526977.1:n.84+1G>A
XM_011528677.1:c.-10+13048G>A	XP_011526979.1:n.-10+13048G>A
XM_017027711.1:c.-10+32715G>A	XP_016883200.1:n.-10+32715G>A
XM_017027712.2:c.84+1G>A	XP_016883201.1:n.84+1G>A
XM_017027713.2:c.84+1G>A	XP_016883202.1:n.84+1G>A
XM_017027714.2:c.84+1G>A	XP_016883203.1:n.84+1G>A
XM_017027716.1:c.-15+13048G>A	XP_016883205.1:n.-15+13048G>A
XM_017027717.2:c.-15+11729G>A	XP_016883206.1:n.-15+11729G>A
XM_017027718.2:c.84+1G>A	XP_016883207.1:n.84+1G>A
XM_017027719.2:c.84+1G>A	XP_016883208.1:n.84+1G>A
XM_017027720.1:c.-15+1G>A	XP_016883209.1:n.-15+1G>A
XM_024451851.1:c.135+13048G>A	XP_024307619.1:n.135+13048G>A
XM_024451853.1:c.-10+13048G>A	XP_024307621.1:n.-10+13048G>A
XM_024451854.1:c.-10+13048G>A	XP_024307622.1:n.-10+13048G>A
NM_001258331.2:c.-10+13048G>A	NP_001245260.1:n.-10+13048G>A