Canonical Allele Identifier: CA475149989
Community Standard Title: NM_013280.5(FLRT1):c.2001C>T (p.Pro667=)
Gene: FLRT1 HGNC NCBI
MACROD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64118268C>T , CM000673.2:g.64118268C>T GRCh38
NC_000011.9:g.63885740C>T , CM000673.1:g.63885740C>T GRCh37
NC_000011.8:g.63642316C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_013280.5:c.2001C>T (FLRT1) MANE Select NP_037412.2:p.Pro667=
NM_014067.4:c.517+32971G>A (MACROD1) MANE Select NP_054786.2:n.517+32971G>A
ENST00000255681.7:c.517+32971G>A (MACROD1) MANE Select ENSP00000255681.6:n.517+32971G>A
ENST00000682287.1:c.2001C>T (FLRT1) MANE Select ENSP00000507207.1:p.Pro667=
NM_001384466.1:c.2001C>T (FLRT1) NP_001371395.1:p.Pro667=
NM_013280.4:c.2001C>T (FLRT1) NP_037412.2:p.Pro667=
NM_014067.3:c.517+32971G>A (MACROD1) NP_054786.2:n.517+32971G>A
ENST00000246841.3:c.2001C>T (FLRT1) ENSP00000246841.3:p.Pro667=
ENST00000255681.6:c.517+32971G>A (MACROD1) ENSP00000255681.6:n.517+32971G>A
ENST00000542359.5:n.298+32971G>A (MACROD1)
ENST00000543422.5:n.81+8586G>A (MACROD1)
ENST00000545464.5:n.629+32971G>A (MACROD1)
ENST00000675777.1:c.517+32971G>A (MACROD1) ENSP00000502549.1:n.517+32971G>A
XM_005273861.1:c.2001C>T (FLRT1) XP_005273918.1:p.Pro667=
XM_005273861.2:c.2001C>T (FLRT1) XP_005273918.1:p.Pro667=
XM_005273939.3:c.517+32971G>A (MACROD1) XP_005273996.1:n.517+32971G>A
XM_005273939.4:c.517+32971G>A (MACROD1) XP_005273996.1:n.517+32971G>A
XM_006718521.2:c.518-2282G>A (MACROD1) XP_006718584.1:n.518-2282G>A
XM_006718521.3:c.518-2282G>A (MACROD1) XP_006718584.1:n.518-2282G>A
XM_011544882.1:c.2001C>T (FLRT1) XP_011543184.1:p.Pro667=
XM_011544883.1:c.2001C>T (FLRT1) XP_011543185.1:p.Pro667=
XM_011544883.2:c.2001C>T (FLRT1) XP_011543185.1:p.Pro667=
XM_011544970.1:c.517+32971G>A (MACROD1) XP_011543272.1:n.517+32971G>A
XM_011544970.2:c.517+32971G>A (MACROD1) XP_011543272.1:n.517+32971G>A
XM_011544971.1:c.517+32971G>A (MACROD1) XP_011543273.1:n.517+32971G>A
XM_011544972.1:c.517+32971G>A (MACROD1) XP_011543274.1:n.517+32971G>A
XM_024448413.1:c.2001C>T (FLRT1) XP_024304181.1:p.Pro667=