Canonical Allele Identifier: CA16042968

Gene: MAP2K1 SNAPC5

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66489761A>G , CM000677.2:g.66489761A>G	GRCh38
NC_000015.9:g.66782099A>G , CM000677.1:g.66782099A>G	GRCh37
NC_000015.8:g.64569153A>G	NCBI36
NG_008305.1:g.107889A>G , LRG_725:g.107889A>G
NG_051234.1:g.13055T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002755.4:c.1066A>G (MAP2K1) MANE Select	NP_002746.1:p.Met356Val
ENST00000307102.10:c.1066A>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Met356Val
NM_002755.3:c.1066A>G , LRG_725t1:c.1066A>G (MAP2K1)	NP_002746.1:p.Met356Val
NM_006049.3:c.*978T>C (SNAPC5)	NP_006040.1:n.*978T>C
NM_006049.4:c.*978T>C (SNAPC5)	NP_006040.1:n.*978T>C
NR_138061.1:n.1497T>C (SNAPC5)
NR_138061.2:n.1444T>C (SNAPC5)
ENST00000307102.9:c.1066A>G (MAP2K1)	ENSP00000302486.4:p.Met356Val
ENST00000566326.1:c.538A>G (MAP2K1)	ENSP00000456438.1:p.Met180Val
ENST00000684779.1:c.*114A>G (MAP2K1)	ENSP00000508681.1:n.*114A>G
ENST00000685172.1:c.1022+485A>G (MAP2K1)	ENSP00000509604.1:n.1022+485A>G
ENST00000685763.1:c.919A>G (MAP2K1)	ENSP00000509016.1:p.Met307Val
ENST00000686347.1:c.739A>G (MAP2K1)	ENSP00000509027.1:p.Met247Val
ENST00000687191.1:n.3346A>G (MAP2K1)
ENST00000687481.1:n.481A>G (MAP2K1)
ENST00000688689.1:n.821A>G (MAP2K1)
ENST00000689951.1:c.1117A>G (MAP2K1)	ENSP00000509308.1:p.Met373Val
ENST00000691077.1:c.*2225A>G (MAP2K1)	ENSP00000509843.1:n.*2225A>G
ENST00000691576.1:c.937A>G (MAP2K1)	ENSP00000510066.1:p.Met313Val
ENST00000691937.1:c.*47A>G (MAP2K1)	ENSP00000508768.1:n.*47A>G
ENST00000692487.1:c.*2666A>G (MAP2K1)	ENSP00000509534.1:n.*2666A>G
ENST00000692683.1:c.1000A>G (MAP2K1)	ENSP00000508437.1:p.Met334Val
ENST00000693150.1:c.922A>G (MAP2K1)	ENSP00000510309.1:p.Met308Val
XM_011521783.1:c.1000A>G (MAP2K1)	XP_011520085.1:p.Met334Val
XM_011521783.3:c.1000A>G (MAP2K1)	XP_011520085.1:p.Met334Val
XM_017022411.2:c.988A>G (MAP2K1)	XP_016877900.1:p.Met330Val
XM_017022412.1:c.922A>G (MAP2K1)	XP_016877901.1:p.Met308Val
XM_017022413.1:c.538A>G (MAP2K1)	XP_016877902.1:p.Met180Val