Canonical Allele Identifier: CA390336288

Gene: NUMB

Linked Data

• MyVariant Identifiers: chr14:g.73743451C>G (hg19) ; chr14:g.73276743C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73276743C>G , CM000676.2:g.73276743C>G	GRCh38
NC_000014.8:g.73743451C>G , CM000676.1:g.73743451C>G	GRCh37
NC_000014.7:g.72813204C>G	NCBI36
NG_029061.2:g.186838G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555238.6:c.1791G>C MANE Select	ENSP00000451300.1:p.Leu597Phe
ENST00000355058.7:c.1791G>C	ENSP00000347169.3:p.Leu597Phe
ENST00000356296.8:c.1647G>C	ENSP00000348644.4:p.Leu549Phe
ENST00000359560.7:c.1758G>C	ENSP00000352563.3:p.Leu586Phe
ENST00000535282.5:c.1647G>C	ENSP00000441258.2:p.Leu549Phe
ENST00000544991.7:c.1206G>C	ENSP00000446001.3:p.Leu402Phe
ENST00000554521.6:c.1173G>C	ENSP00000450817.2:p.Leu391Phe
ENST00000554546.5:c.1614G>C	ENSP00000452416.1:p.Leu538Phe
ENST00000555238.5:c.1791G>C	ENSP00000451300.1:p.Leu597Phe
ENST00000555394.5:c.1647G>C	ENSP00000451625.1:p.Leu549Phe
ENST00000555738.6:c.1320G>C	ENSP00000452069.2:p.Leu440Phe
ENST00000556772.5:c.1359G>C	ENSP00000451513.1:p.Leu453Phe
ENST00000557597.5:c.1758G>C	ENSP00000451117.1:p.Leu586Phe
ENST00000559312.5:c.1206G>C	ENSP00000452888.1:p.Leu402Phe
ENST00000560335.5:c.1353G>C	ENSP00000453209.1:p.Leu451Phe
NM_001005743.1:c.1791G>C	NP_001005743.1:p.Leu597Phe
NM_001005744.1:c.1647G>C	NP_001005744.1:p.Leu549Phe
NM_001005745.1:c.1614G>C	NP_001005745.1:p.Leu538Phe
NM_003744.5:c.1758G>C	NP_003735.3:p.Leu586Phe
XM_005268142.3:c.1791G>C	XP_005268199.1:p.Leu597Phe
XM_005268144.3:c.1758G>C	XP_005268201.1:p.Leu586Phe
XM_005268145.3:c.1749G>C	XP_005268202.1:p.Leu583Phe
XM_005268146.3:c.1647G>C	XP_005268203.1:p.Leu549Phe
XM_011537253.1:c.1791G>C	XP_011535555.1:p.Leu597Phe
XM_011537254.1:c.1791G>C	XP_011535556.1:p.Leu597Phe
XM_011537255.1:c.1791G>C	XP_011535557.1:p.Leu597Phe
XM_011537256.1:c.1782G>C	XP_011535558.1:p.Leu594Phe
XM_011537257.1:c.1758G>C	XP_011535559.1:p.Leu586Phe
XM_011537258.1:c.1758G>C	XP_011535560.1:p.Leu586Phe
XM_011537259.1:c.1749G>C	XP_011535561.1:p.Leu583Phe
XM_011537260.1:c.1647G>C	XP_011535562.1:p.Leu549Phe
XM_011537261.1:c.1638G>C	XP_011535563.1:p.Leu546Phe
XM_011537262.1:c.1497G>C	XP_011535564.1:p.Leu499Phe
XM_011537263.1:c.1353G>C	XP_011535565.1:p.Leu451Phe
XM_011537264.1:c.1320G>C	XP_011535566.1:p.Leu440Phe
NM_001320114.1:c.1647G>C	NP_001307043.1:p.Leu549Phe
NM_001005743.2:c.1791G>C MANE Select	NP_001005743.1:p.Leu597Phe
NM_001005744.2:c.1647G>C	NP_001005744.1:p.Leu549Phe
NM_001005745.2:c.1614G>C	NP_001005745.1:p.Leu538Phe
NM_001320114.2:c.1647G>C	NP_001307043.1:p.Leu549Phe
NM_003744.6:c.1758G>C	NP_003735.3:p.Leu586Phe