Canonical Allele Identifier: CA2671363684

Gene: MEPE

Linked Data

• gnomAD v4: 4-87834805-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834805C>A , CM000666.2:g.87834805C>A	GRCh38
NC_000004.11:g.88755957C>A , CM000666.1:g.88755957C>A	GRCh37
NC_000004.10:g.88974981C>A	NCBI36
NG_034073.1:g.18408C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.54+37C>A MANE Select	ENSP00000354341.3:n.54+37C>A
ENST00000424957.8:c.54+37C>A	ENSP00000416984.3:n.54+37C>A
ENST00000560249.6:c.54+37C>A	ENSP00000453994.2:n.54+37C>A
ENST00000361056.3:c.54+37C>A	ENSP00000354341.3:n.54+37C>A
ENST00000395102.8:c.54+37C>A	ENSP00000378534.4:n.54+37C>A
ENST00000424957.7:c.54+37C>A	ENSP00000416984.3:n.54+37C>A
ENST00000497649.6:c.-248+37C>A	ENSP00000422747.1:n.-248+37C>A
ENST00000508016.5:n.112+37C>A
ENST00000511670.5:c.54+37C>A	ENSP00000421430.1:n.54+37C>A
ENST00000515821.5:n.112+37C>A
ENST00000540395.1:c.-414+37C>A	ENSP00000443491.1:n.-414+37C>A
ENST00000560249.5:c.-485+37C>A	ENSP00000453994.1:n.-485+37C>A
NM_001184694.2:c.54+37C>A	NP_001171623.1:n.54+37C>A
NM_001184695.1:c.-392+37C>A	NP_001171624.1:n.-392+37C>A
NM_001184696.1:c.-414+37C>A	NP_001171625.1:n.-414+37C>A
NM_001184697.1:c.-485+37C>A	NP_001171626.1:n.-485+37C>A
NM_001291183.1:c.54+37C>A	NP_001278112.1:n.54+37C>A
NM_020203.3:c.54+37C>A	NP_064588.1:n.54+37C>A
XM_006714278.1:c.54+37C>A	XP_006714341.1:n.54+37C>A
XM_006714278.2:c.54+37C>A	XP_006714341.1:n.54+37C>A
NM_001184695.2:c.-392+37C>A	NP_001171624.1:n.-392+37C>A
NM_020203.4:c.54+37C>A	NP_064588.1:n.54+37C>A
NM_001184694.3:c.54+37C>A	NP_001171623.1:n.54+37C>A
NM_001184695.4:c.-392+37C>A	NP_001171624.1:n.-392+37C>A
NM_001184696.2:c.-414+37C>A	NP_001171625.1:n.-414+37C>A
NM_001184697.2:c.-485+37C>A	NP_001171626.1:n.-485+37C>A
NM_001291183.2:c.54+37C>A	NP_001278112.1:n.54+37C>A
NM_020203.6:c.54+37C>A MANE Select	NP_064588.1:n.54+37C>A