Canonical Allele Identifier: CA552862524

Gene: MEPE

Linked Data

• dbSNP Id: rs1223723810
• gnomAD v2: 4-88755931-A-C
• gnomAD v4: 4-87834779-A-C
• MyVariant Identifiers: chr4:g.88755931A>C (hg19) ; chr4:g.87834779A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.87834779A>C , CM000666.2:g.87834779A>C	GRCh38
NC_000004.11:g.88755931A>C , CM000666.1:g.88755931A>C	GRCh37
NC_000004.10:g.88974955A>C	NCBI36
NG_034073.1:g.18382A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361056.4:c.54+11A>C MANE Select	ENSP00000354341.3:n.54+11A>C
ENST00000424957.8:c.54+11A>C	ENSP00000416984.3:n.54+11A>C
ENST00000560249.6:c.54+11A>C	ENSP00000453994.2:n.54+11A>C
ENST00000361056.3:c.54+11A>C	ENSP00000354341.3:n.54+11A>C
ENST00000395102.8:c.54+11A>C	ENSP00000378534.4:n.54+11A>C
ENST00000424957.7:c.54+11A>C	ENSP00000416984.3:n.54+11A>C
ENST00000497649.6:c.-248+11A>C	ENSP00000422747.1:n.-248+11A>C
ENST00000508016.5:n.112+11A>C
ENST00000511670.5:c.54+11A>C	ENSP00000421430.1:n.54+11A>C
ENST00000515821.5:n.112+11A>C
ENST00000540395.1:c.-414+11A>C	ENSP00000443491.1:n.-414+11A>C
ENST00000560249.5:c.-485+11A>C	ENSP00000453994.1:n.-485+11A>C
NM_001184694.2:c.54+11A>C	NP_001171623.1:n.54+11A>C
NM_001184695.1:c.-392+11A>C	NP_001171624.1:n.-392+11A>C
NM_001184696.1:c.-414+11A>C	NP_001171625.1:n.-414+11A>C
NM_001184697.1:c.-485+11A>C	NP_001171626.1:n.-485+11A>C
NM_001291183.1:c.54+11A>C	NP_001278112.1:n.54+11A>C
NM_020203.3:c.54+11A>C	NP_064588.1:n.54+11A>C
XM_006714278.1:c.54+11A>C	XP_006714341.1:n.54+11A>C
XM_006714278.2:c.54+11A>C	XP_006714341.1:n.54+11A>C
NM_001184695.2:c.-392+11A>C	NP_001171624.1:n.-392+11A>C
NM_020203.4:c.54+11A>C	NP_064588.1:n.54+11A>C
NM_001184694.3:c.54+11A>C	NP_001171623.1:n.54+11A>C
NM_001184695.4:c.-392+11A>C	NP_001171624.1:n.-392+11A>C
NM_001184696.2:c.-414+11A>C	NP_001171625.1:n.-414+11A>C
NM_001184697.2:c.-485+11A>C	NP_001171626.1:n.-485+11A>C
NM_001291183.2:c.54+11A>C	NP_001278112.1:n.54+11A>C
NM_020203.6:c.54+11A>C MANE Select	NP_064588.1:n.54+11A>C