Canonical Allele Identifier: CA6912678

Gene: MIPEP

Linked Data

• ClinVar Variation Id: 392943
• ClinVar RCV Id: RCV000432045 ; RCV001335345
• dbSNP Id: rs150308123
• ExAC: 13:24304584 C / T
• gnomAD v2: 13-24304584-C-T
• gnomAD v3: 13-23730445-C-T
• gnomAD v4: 13-23730445-C-T
• MyVariant Identifiers: chr13:g.24304584C>T (hg19) ; chr13:g.23730445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.23730445C>T , CM000675.2:g.23730445C>T	GRCh38
NC_000013.10:g.24304584C>T , CM000675.1:g.24304584C>T	GRCh37
NC_000013.9:g.23202584C>T	NCBI36
NG_052977.1:g.164004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000382172.4:c.2045G>A MANE Select	ENSP00000371607.3:p.Gly682Asp
ENST00000382172.3:c.2045G>A	ENSP00000371607.3:p.Gly682Asp
ENST00000433710.2:n.238G>A
ENST00000464194.3:n.287G>A
NM_005932.3:c.2045G>A	NP_005923.2:p.Gly682Asp
XM_011535097.1:c.1859G>A	XP_011533399.1:p.Gly620Asp
XR_941745.1:n.371-4102C>T
XM_011535097.2:c.1859G>A	XP_011533399.1:p.Gly620Asp
XR_941745.2:n.394-4102C>T
NM_005932.4:c.2045G>A MANE Select	NP_005923.3:p.Gly682Asp