Canonical Allele Identifier: CA100875728

Gene: MEPE

Linked Data

• dbSNP Id: rs559879703
• gnomAD v2: 4-88756183-C-T
• gnomAD v3: 4-87835031-C-T
• gnomAD v4: 4-87835031-C-T
• MyVariant Identifiers: chr4:g.88756183C>T (hg19) ; chr4:g.87835031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87835031C>T , CM000666.2:g.87835031C>T	GRCh38
NC_000004.11:g.88756183C>T , CM000666.1:g.88756183C>T	GRCh37
NC_000004.10:g.88975207C>T	NCBI36
NG_034073.1:g.18634C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.54+263C>T MANE Select	ENSP00000354341.3:n.54+263C>T
ENST00000424957.8:c.54+263C>T	ENSP00000416984.3:n.54+263C>T
ENST00000560249.6:c.54+263C>T	ENSP00000453994.2:n.54+263C>T
ENST00000361056.3:c.54+263C>T	ENSP00000354341.3:n.54+263C>T
ENST00000395102.8:c.54+263C>T	ENSP00000378534.4:n.54+263C>T
ENST00000424957.7:c.54+263C>T	ENSP00000416984.3:n.54+263C>T
ENST00000497649.6:c.-248+263C>T	ENSP00000422747.1:n.-248+263C>T
ENST00000508016.5:n.112+263C>T
ENST00000511670.5:c.54+263C>T	ENSP00000421430.1:n.54+263C>T
ENST00000515821.5:n.112+263C>T
ENST00000540395.1:c.-414+263C>T	ENSP00000443491.1:n.-414+263C>T
ENST00000560249.5:c.-485+263C>T	ENSP00000453994.1:n.-485+263C>T
NM_001184694.2:c.54+263C>T	NP_001171623.1:n.54+263C>T
NM_001184695.1:c.-392+263C>T	NP_001171624.1:n.-392+263C>T
NM_001184696.1:c.-414+263C>T	NP_001171625.1:n.-414+263C>T
NM_001184697.1:c.-485+263C>T	NP_001171626.1:n.-485+263C>T
NM_001291183.1:c.54+263C>T	NP_001278112.1:n.54+263C>T
NM_020203.3:c.54+263C>T	NP_064588.1:n.54+263C>T
XM_006714278.1:c.54+263C>T	XP_006714341.1:n.54+263C>T
XM_006714278.2:c.54+263C>T	XP_006714341.1:n.54+263C>T
NM_001184695.2:c.-392+263C>T	NP_001171624.1:n.-392+263C>T
NM_020203.4:c.54+263C>T	NP_064588.1:n.54+263C>T
NM_001184694.3:c.54+263C>T	NP_001171623.1:n.54+263C>T
NM_001184695.4:c.-392+263C>T	NP_001171624.1:n.-392+263C>T
NM_001184696.2:c.-414+263C>T	NP_001171625.1:n.-414+263C>T
NM_001184697.2:c.-485+263C>T	NP_001171626.1:n.-485+263C>T
NM_001291183.2:c.54+263C>T	NP_001278112.1:n.54+263C>T
NM_020203.6:c.54+263C>T MANE Select	NP_064588.1:n.54+263C>T