Canonical Allele Identifier: CA1474484795

Gene: MEPE

Linked Data

• dbSNP Id: rs940585358
• gnomAD v4: 4-87834635-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834635A>C , CM000666.2:g.87834635A>C	GRCh38
NC_000004.11:g.88755787A>C , CM000666.1:g.88755787A>C	GRCh37
NC_000004.10:g.88974811A>C	NCBI36
NG_034073.1:g.18238A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.-12-68A>C MANE Select	ENSP00000354341.3:n.-12-68A>C
ENST00000424957.8:c.-12-68A>C	ENSP00000416984.3:n.-12-68A>C
ENST00000560249.6:c.-12-68A>C	ENSP00000453994.2:n.-12-68A>C
ENST00000361056.3:c.-12-68A>C	ENSP00000354341.3:n.-12-68A>C
ENST00000395102.8:c.-12-68A>C	ENSP00000378534.4:n.-12-68A>C
ENST00000424957.7:c.-12-68A>C	ENSP00000416984.3:n.-12-68A>C
ENST00000497649.6:c.-313-68A>C	ENSP00000422747.1:n.-313-68A>C
ENST00000508016.5:n.47-68A>C
ENST00000511670.5:c.-12-68A>C	ENSP00000421430.1:n.-12-68A>C
ENST00000515821.5:n.47-68A>C
ENST00000540395.1:c.-479-68A>C	ENSP00000443491.1:n.-479-68A>C
ENST00000560249.5:c.-550-68A>C	ENSP00000453994.1:n.-550-68A>C
NM_001184694.2:c.-12-68A>C	NP_001171623.1:n.-12-68A>C
NM_001184695.1:c.-457-68A>C	NP_001171624.1:n.-457-68A>C
NM_001184696.1:c.-479-68A>C	NP_001171625.1:n.-479-68A>C
NM_001184697.1:c.-550-68A>C	NP_001171626.1:n.-550-68A>C
NM_020203.3:c.-12-68A>C	NP_064588.1:n.-12-68A>C
XM_006714278.1:c.-12-68A>C	XP_006714341.1:n.-12-68A>C
XM_006714278.2:c.-12-68A>C	XP_006714341.1:n.-12-68A>C
NM_001184695.2:c.-457-68A>C	NP_001171624.1:n.-457-68A>C
NM_020203.4:c.-12-68A>C	NP_064588.1:n.-12-68A>C
NM_001184694.3:c.-12-68A>C	NP_001171623.1:n.-12-68A>C
NM_001184695.4:c.-457-68A>C	NP_001171624.1:n.-457-68A>C
NM_001184696.2:c.-479-68A>C	NP_001171625.1:n.-479-68A>C
NM_001184697.2:c.-550-68A>C	NP_001171626.1:n.-550-68A>C
NM_001291183.2:c.-12-68A>C	NP_001278112.1:n.-12-68A>C
NM_020203.6:c.-12-68A>C MANE Select	NP_064588.1:n.-12-68A>C