Canonical Allele Identifier: CA391755690
Community Standard Title: NM_001077268.2(ZFYVE19):c.226A>G (p.Met76Val)
Gene: ZFYVE19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40807815A>G , CM000677.2:g.40807815A>G GRCh38
NC_000015.9:g.41100013A>G , CM000677.1:g.41100013A>G GRCh37
NC_000015.8:g.38887305A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001077268.2:c.226A>G MANE Select NP_001070736.1:p.Met76Val
ENST00000355341.8:c.226A>G MANE Select ENSP00000347498.4:p.Met76Val
NM_001077268.1:c.226A>G NP_001070736.1:p.Met76Val
NM_001258420.1:c.226A>G NP_001245349.1:p.Met76Val
NM_001258420.2:c.226A>G NP_001245349.1:p.Met76Val
NM_001258421.1:c.-247+144A>G NP_001245350.1:n.-247+144A>G
NM_001258421.2:c.-247+144A>G NP_001245350.1:n.-247+144A>G
NM_032850.4:c.125+402A>G NP_116239.3:n.125+402A>G
NM_032850.5:c.125+402A>G NP_116239.3:n.125+402A>G
ENST00000299173.14:c.226A>G ENSP00000299173.10:p.Met76Val
ENST00000336455.9:c.125+402A>G ENSP00000337824.5:n.125+402A>G
ENST00000561617.1:c.59A>G
ENST00000561768.5:c.48A>G
ENST00000563530.1:n.156A>G
ENST00000564258.5:c.-247+144A>G ENSP00000457617.1:n.-247+144A>G
ENST00000566407.5:c.139A>G ENSP00000456304.1:p.Met47Val
ENST00000567756.5:c.82A>G ENSP00000458096.1:p.Met28Val
ENST00000568062.5:c.174A>G
ENST00000569057.5:c.53A>G
ENST00000570108.5:c.157A>G ENSP00000456223.1:p.Met53Val
XM_017022684.2:c.226A>G XP_016878173.1:p.Met76Val
XM_024450092.1:c.-349A>G XP_024305860.1:n.-349A>G
XR_931925.1:n.740A>G
XR_931925.3:n.730A>G