Canonical Allele Identifier: CA7485641
Community Standard Title: NM_001077268.2(ZFYVE19):c.514C>T (p.Arg172Ter)
Gene: ZFYVE19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40809913C>T , CM000677.2:g.40809913C>T GRCh38
NC_000015.9:g.41102111C>T , CM000677.1:g.41102111C>T GRCh37
NC_000015.8:g.38889403C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001077268.2:c.514C>T MANE Select NP_001070736.1:p.Arg172Ter
ENST00000355341.8:c.514C>T MANE Select ENSP00000347498.4:p.Arg172Ter
NM_001077268.1:c.514C>T NP_001070736.1:p.Arg172Ter
NM_001258420.1:c.514C>T NP_001245349.1:p.Arg172Ter
NM_001258420.2:c.514C>T NP_001245349.1:p.Arg172Ter
NM_001258421.1:c.-12C>T NP_001245350.1:n.-12C>T
NM_001258421.2:c.-12C>T NP_001245350.1:n.-12C>T
NM_032850.4:c.484C>T NP_116239.3:p.Arg162Ter
NM_032850.5:c.484C>T NP_116239.3:p.Arg162Ter
ENST00000299173.14:c.514C>T ENSP00000299173.10:p.Arg172Ter
ENST00000336455.9:c.484C>T ENSP00000337824.5:p.Arg162Ter
ENST00000560078.1:n.1400C>T
ENST00000561617.1:c.296C>T
ENST00000561768.5:c.289C>T
ENST00000564258.5:c.-12C>T ENSP00000457617.1:n.-12C>T
ENST00000566407.5:c.427C>T ENSP00000456304.1:p.Arg143Ter
ENST00000566767.1:c.-12C>T ENSP00000457839.1:n.-12C>T
ENST00000567756.5:c.333C>T ENSP00000458096.1:n.333C>T
ENST00000568062.5:c.494C>T
ENST00000569057.5:c.219C>T
ENST00000570108.5:c.445C>T ENSP00000456223.1:p.Arg149Ter
XM_017022684.2:c.514C>T XP_016878173.1:p.Arg172Ter
XM_024450092.1:c.-61C>T XP_024305860.1:n.-61C>T
XR_931925.1:n.1028C>T
XR_931925.3:n.1018C>T