Canonical Allele Identifier: CA1590442232
Gene: AFAP1L1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.149326736C>T , CM000667.2:g.149326736C>T GRCh38
NC_000005.9:g.148706299C>T , CM000667.1:g.148706299C>T GRCh37
NC_000005.8:g.148686492C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296721.9:c.1811-2930C>T MANE Select ENSP00000296721.4:n.1811-2930C>T
ENST00000296721.8:c.1811-2930C>T ENSP00000296721.4:n.1811-2930C>T
ENST00000513665.1:n.972-2930C>T
ENST00000515000.1:c.1811-2930C>T ENSP00000424427.1:n.1811-2930C>T
NM_001146337.1:c.1811-2930C>T NP_001139809.1:n.1811-2930C>T
NM_152406.2:c.1811-2930C>T NP_689619.1:n.1811-2930C>T
XM_005268373.2:c.1712-2930C>T XP_005268430.1:n.1712-2930C>T
XM_011537558.1:c.1391-2930C>T XP_011535860.1:n.1391-2930C>T
NM_001146337.2:c.1811-2930C>T NP_001139809.1:n.1811-2930C>T
NM_001323062.1:c.1712-2930C>T NP_001309991.1:n.1712-2930C>T
NM_152406.3:c.1811-2930C>T NP_689619.1:n.1811-2930C>T
XM_011537558.2:c.1391-2930C>T XP_011535860.1:n.1391-2930C>T
XM_017009036.1:c.1709-2930C>T XP_016864525.1:n.1709-2930C>T
NM_152406.4:c.1811-2930C>T MANE Select NP_689619.1:n.1811-2930C>T
NM_001146337.3:c.1811-2930C>T NP_001139809.1:n.1811-2930C>T
NM_001323062.2:c.1712-2930C>T NP_001309991.1:n.1712-2930C>T