Canonical Allele Identifier: CA393783804
Gene: ANPEP HGNC NCBI

Linked Data

dbSNP Id: rs1370277497

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89792519C>G , CM000677.2:g.89792519C>G GRCh38
NC_000015.9:g.90335750C>G , CM000677.1:g.90335750C>G GRCh37
NC_000015.8:g.88136754C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000300060.7:c.2293G>C MANE Select ENSP00000300060.6:p.Val765Leu
ENST00000559874.2:c.2293G>C ENSP00000452934.2:p.Val765Leu
ENST00000560137.2:c.2293G>C ENSP00000453413.2:p.Val765Leu
ENST00000679248.1:c.2293G>C ENSP00000502886.1:p.Val765Leu
ENST00000300060.6:c.2293G>C ENSP00000300060.6:p.Val765Leu
ENST00000558740.1:n.197G>C
NM_001150.2:c.2293G>C NP_001141.2:p.Val765Leu
XM_005254892.3:c.2293G>C XP_005254949.1:p.Val765Leu
XM_011521473.1:c.2293G>C XP_011519775.1:p.Val765Leu
XM_005254892.4:c.2293G>C XP_005254949.1:p.Val765Leu
NM_001150.3:c.2293G>C MANE Select NP_001141.2:p.Val765Leu
NM_001381923.1:c.2293G>C NP_001368852.1:p.Val765Leu
NM_001381924.1:c.2293G>C NP_001368853.1:p.Val765Leu