Canonical Allele Identifier: CA3002524

Gene: MEPE

Linked Data

• dbSNP Id: rs7698623
• ExAC: 4:88755828 T / A
• gnomAD v2: 4-88755828-T-A
• gnomAD v3: 4-87834676-T-A
• gnomAD v4: 4-87834676-T-A
• MyVariant Identifiers: chr4:g.88755828T>A (hg19) ; chr4:g.87834676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834676T>A , CM000666.2:g.87834676T>A	GRCh38
NC_000004.11:g.88755828T>A , CM000666.1:g.88755828T>A	GRCh37
NC_000004.10:g.88974852T>A	NCBI36
NG_034073.1:g.18279T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361056.4:c.-12-27T>A MANE Select	ENSP00000354341.3:n.-12-27T>A
ENST00000424957.8:c.-12-27T>A	ENSP00000416984.3:n.-12-27T>A
ENST00000560249.6:c.-12-27T>A	ENSP00000453994.2:n.-12-27T>A
ENST00000361056.3:c.-12-27T>A	ENSP00000354341.3:n.-12-27T>A
ENST00000395102.8:c.-12-27T>A	ENSP00000378534.4:n.-12-27T>A
ENST00000424957.7:c.-12-27T>A	ENSP00000416984.3:n.-12-27T>A
ENST00000497649.6:c.-313-27T>A	ENSP00000422747.1:n.-313-27T>A
ENST00000508016.5:n.47-27T>A
ENST00000511670.5:c.-12-27T>A	ENSP00000421430.1:n.-12-27T>A
ENST00000515821.5:n.47-27T>A
ENST00000540395.1:c.-479-27T>A	ENSP00000443491.1:n.-479-27T>A
ENST00000560249.5:c.-550-27T>A	ENSP00000453994.1:n.-550-27T>A
NM_001184694.2:c.-12-27T>A	NP_001171623.1:n.-12-27T>A
NM_001184695.1:c.-457-27T>A	NP_001171624.1:n.-457-27T>A
NM_001184696.1:c.-479-27T>A	NP_001171625.1:n.-479-27T>A
NM_001184697.1:c.-550-27T>A	NP_001171626.1:n.-550-27T>A
NM_020203.3:c.-12-27T>A	NP_064588.1:n.-12-27T>A
XM_006714278.1:c.-12-27T>A	XP_006714341.1:n.-12-27T>A
XM_006714278.2:c.-12-27T>A	XP_006714341.1:n.-12-27T>A
NM_001184695.2:c.-457-27T>A	NP_001171624.1:n.-457-27T>A
NM_020203.4:c.-12-27T>A	NP_064588.1:n.-12-27T>A
NM_001184694.3:c.-12-27T>A	NP_001171623.1:n.-12-27T>A
NM_001184695.4:c.-457-27T>A	NP_001171624.1:n.-457-27T>A
NM_001184696.2:c.-479-27T>A	NP_001171625.1:n.-479-27T>A
NM_001184697.2:c.-550-27T>A	NP_001171626.1:n.-550-27T>A
NM_001291183.2:c.-12-27T>A	NP_001278112.1:n.-12-27T>A
NM_020203.6:c.-12-27T>A MANE Select	NP_064588.1:n.-12-27T>A