Canonical Allele Identifier: CA440264115

Gene: MEPE

Linked Data

• MyVariant Identifiers: chr4:g.88755917A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834765A>T , CM000666.2:g.87834765A>T	GRCh38
NC_000004.11:g.88755917A>T , CM000666.1:g.88755917A>T	GRCh37
NC_000004.10:g.88974941A>T	NCBI36
NG_034073.1:g.18368A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.51A>T MANE Select	ENSP00000354341.3:p.Ala17=
ENST00000424957.8:c.51A>T	ENSP00000416984.3:p.Ala17=
ENST00000560249.6:c.51A>T	ENSP00000453994.2:p.Ala17=
ENST00000361056.3:c.51A>T	ENSP00000354341.3:p.Ala17=
ENST00000395102.8:c.51A>T	ENSP00000378534.4:p.Ala17=
ENST00000424957.7:c.51A>T	ENSP00000416984.3:p.Ala17=
ENST00000497649.6:c.-251A>T	ENSP00000422747.1:n.-251A>T
ENST00000508016.5:n.109A>T
ENST00000511670.5:c.51A>T	ENSP00000421430.1:p.Ala17=
ENST00000515821.5:n.109A>T
ENST00000540395.1:c.-417A>T	ENSP00000443491.1:n.-417A>T
ENST00000560249.5:c.-488A>T	ENSP00000453994.1:n.-488A>T
NM_001184694.2:c.51A>T	NP_001171623.1:p.Ala17=
NM_001184695.1:c.-395A>T	NP_001171624.1:n.-395A>T
NM_001184696.1:c.-417A>T	NP_001171625.1:n.-417A>T
NM_001184697.1:c.-488A>T	NP_001171626.1:n.-488A>T
NM_001291183.1:c.51A>T	NP_001278112.1:p.Ala17=
NM_020203.3:c.51A>T	NP_064588.1:p.Ala17=
XM_006714278.1:c.51A>T	XP_006714341.1:p.Ala17=
XM_006714278.2:c.51A>T	XP_006714341.1:p.Ala17=
NM_001184695.2:c.-395A>T	NP_001171624.1:n.-395A>T
NM_020203.4:c.51A>T	NP_064588.1:p.Ala17=
NM_001184694.3:c.51A>T	NP_001171623.1:p.Ala17=
NM_001184695.4:c.-395A>T	NP_001171624.1:n.-395A>T
NM_001184696.2:c.-417A>T	NP_001171625.1:n.-417A>T
NM_001184697.2:c.-488A>T	NP_001171626.1:n.-488A>T
NM_001291183.2:c.51A>T	NP_001278112.1:p.Ala17=
NM_020203.6:c.51A>T MANE Select	NP_064588.1:p.Ala17=