Canonical Allele Identifier: CA2762532389

Gene: MEPE

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834843C>T , CM000666.2:g.87834843C>T	GRCh38
NC_000004.11:g.88755995C>T , CM000666.1:g.88755995C>T	GRCh37
NC_000004.10:g.88975019C>T	NCBI36
NG_034073.1:g.18446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.54+75C>T MANE Select	ENSP00000354341.3:n.54+75C>T
ENST00000424957.8:c.54+75C>T	ENSP00000416984.3:n.54+75C>T
ENST00000560249.6:c.54+75C>T	ENSP00000453994.2:n.54+75C>T
ENST00000361056.3:c.54+75C>T	ENSP00000354341.3:n.54+75C>T
ENST00000395102.8:c.54+75C>T	ENSP00000378534.4:n.54+75C>T
ENST00000424957.7:c.54+75C>T	ENSP00000416984.3:n.54+75C>T
ENST00000497649.6:c.-248+75C>T	ENSP00000422747.1:n.-248+75C>T
ENST00000508016.5:n.112+75C>T
ENST00000511670.5:c.54+75C>T	ENSP00000421430.1:n.54+75C>T
ENST00000515821.5:n.112+75C>T
ENST00000540395.1:c.-414+75C>T	ENSP00000443491.1:n.-414+75C>T
ENST00000560249.5:c.-485+75C>T	ENSP00000453994.1:n.-485+75C>T
NM_001184694.2:c.54+75C>T	NP_001171623.1:n.54+75C>T
NM_001184695.1:c.-392+75C>T	NP_001171624.1:n.-392+75C>T
NM_001184696.1:c.-414+75C>T	NP_001171625.1:n.-414+75C>T
NM_001184697.1:c.-485+75C>T	NP_001171626.1:n.-485+75C>T
NM_001291183.1:c.54+75C>T	NP_001278112.1:n.54+75C>T
NM_020203.3:c.54+75C>T	NP_064588.1:n.54+75C>T
XM_006714278.1:c.54+75C>T	XP_006714341.1:n.54+75C>T
XM_006714278.2:c.54+75C>T	XP_006714341.1:n.54+75C>T
NM_001184695.2:c.-392+75C>T	NP_001171624.1:n.-392+75C>T
NM_020203.4:c.54+75C>T	NP_064588.1:n.54+75C>T
NM_001184694.3:c.54+75C>T	NP_001171623.1:n.54+75C>T
NM_001184695.4:c.-392+75C>T	NP_001171624.1:n.-392+75C>T
NM_001184696.2:c.-414+75C>T	NP_001171625.1:n.-414+75C>T
NM_001184697.2:c.-485+75C>T	NP_001171626.1:n.-485+75C>T
NM_001291183.2:c.54+75C>T	NP_001278112.1:n.54+75C>T
NM_020203.6:c.54+75C>T MANE Select	NP_064588.1:n.54+75C>T