Canonical Allele Identifier: CA4374449

Gene: AP4M1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.100101958C>T , CM000669.2:g.100101958C>T	GRCh38
NC_000007.13:g.99699581C>T , CM000669.1:g.99699581C>T	GRCh37
NC_000007.12:g.99537517C>T	NCBI36
NG_016312.1:g.5452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004722.4:c.137C>T MANE Select	NP_004713.2:p.Pro46Leu
ENST00000359593.9:c.137C>T MANE Select	ENSP00000352603.4:p.Pro46Leu
NM_001363671.1:c.137C>T	NP_001350600.1:p.Pro46Leu
NM_001363671.2:c.137C>T	NP_001350600.1:p.Pro46Leu
NM_004722.3:c.137C>T	NP_004713.2:p.Pro46Leu
ENST00000359593.8:c.137C>T	ENSP00000352603.4:p.Pro46Leu
ENST00000394061.7:c.137C>T	ENSP00000377625.3:p.Pro46Leu
ENST00000416938.5:c.93C>T
ENST00000421755.5:c.137C>T	ENSP00000412185.1:p.Pro46Leu
ENST00000429084.5:c.137C>T	ENSP00000403663.1:p.Pro46Leu
ENST00000438383.5:c.137C>T	ENSP00000401613.1:p.Pro46Leu
ENST00000439416.5:c.137C>T	ENSP00000414286.1:p.Pro46Leu
ENST00000445208.5:c.137C>T	ENSP00000400598.1:p.Pro46Leu
ENST00000445295.2:c.137C>T	ENSP00000393723.2:p.Pro46Leu
ENST00000446007.5:c.137C>T	ENSP00000396928.1:p.Pro46Leu
ENST00000463195.5:n.190C>T
ENST00000478501.5:n.216C>T
ENST00000713591.1:c.137C>T	ENSP00000518888.1:p.Pro46Leu
XM_005250689.3:c.137C>T	XP_005250746.1:p.Pro46Leu
XM_005250689.4:c.137C>T	XP_005250746.1:p.Pro46Leu
XM_005250690.3:c.137C>T	XP_005250747.1:p.Pro46Leu
XM_005250690.4:c.137C>T	XP_005250747.1:p.Pro46Leu
XM_006716175.2:c.137C>T	XP_006716238.1:p.Pro46Leu
XM_006716175.4:c.137C>T	XP_006716238.1:p.Pro46Leu
XM_011516685.1:c.137C>T	XP_011514987.1:p.Pro46Leu
XM_011516686.1:c.-323C>T	XP_011514988.1:n.-323C>T
XM_017012791.2:c.-268C>T	XP_016868280.1:n.-268C>T
XM_024446995.1:c.137C>T	XP_024302763.1:p.Pro46Leu