Canonical Allele Identifier: CA490862035

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782887A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490549A>G , CM000677.2:g.66490549A>G	GRCh38
NC_000015.9:g.66782887A>G , CM000677.1:g.66782887A>G	GRCh37
NC_000015.8:g.64569941A>G	NCBI36
NG_008305.1:g.108677A>G , LRG_725:g.108677A>G
NG_051234.1:g.12267T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*164A>G (MAP2K1)	ENSP00000508681.1:n.*164A>G
ENST00000685172.1:c.1070A>G (MAP2K1)	ENSP00000509604.1:p.Gln357Arg
ENST00000685763.1:c.969A>G (MAP2K1)	ENSP00000509016.1:p.Ala323=
ENST00000686347.1:c.789A>G (MAP2K1)	ENSP00000509027.1:p.Ala263=
ENST00000687191.1:n.3396A>G (MAP2K1)
ENST00000687481.1:n.531A>G (MAP2K1)
ENST00000688689.1:n.871A>G (MAP2K1)
ENST00000689951.1:c.1167A>G (MAP2K1)	ENSP00000509308.1:p.Ala389=
ENST00000691077.1:c.*2275A>G (MAP2K1)	ENSP00000509843.1:n.*2275A>G
ENST00000691576.1:c.987A>G (MAP2K1)	ENSP00000510066.1:p.Ala329=
ENST00000691937.1:c.*97A>G (MAP2K1)	ENSP00000508768.1:n.*97A>G
ENST00000692487.1:c.*2716A>G (MAP2K1)	ENSP00000509534.1:n.*2716A>G
ENST00000692683.1:c.1050A>G (MAP2K1)	ENSP00000508437.1:p.Ala350=
ENST00000693150.1:c.972A>G (MAP2K1)	ENSP00000510309.1:p.Ala324=
ENST00000307102.10:c.1116A>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Ala372=
ENST00000307102.9:c.1116A>G (MAP2K1)	ENSP00000302486.4:p.Ala372=
ENST00000395589.6:c.*190T>C (SNAPC5)	ENSP00000378954.2:n.*190T>C
ENST00000563480.6:c.*190T>C (SNAPC5)	ENSP00000457892.1:n.*190T>C
ENST00000566326.1:c.588A>G (MAP2K1)	ENSP00000456438.1:p.Ala196=
NM_002755.3:c.1116A>G , LRG_725t1:c.1116A>G (MAP2K1)	NP_002746.1:p.Ala372=
NM_006049.2:c.*190T>C (SNAPC5)	NP_006040.1:n.*190T>C
XM_011521783.1:c.1050A>G (MAP2K1)	XP_011520085.1:p.Ala350=
NM_006049.3:c.*190T>C (SNAPC5)	NP_006040.1:n.*190T>C
NR_138061.1:n.709T>C (SNAPC5)
XM_011521783.3:c.1050A>G (MAP2K1)	XP_011520085.1:p.Ala350=
XM_017022411.2:c.1038A>G (MAP2K1)	XP_016877900.1:p.Ala346=
XM_017022412.1:c.972A>G (MAP2K1)	XP_016877901.1:p.Ala324=
XM_017022413.1:c.588A>G (MAP2K1)	XP_016877902.1:p.Ala196=
NM_002755.4:c.1116A>G (MAP2K1) MANE Select	NP_002746.1:p.Ala372=
NM_006049.4:c.*190T>C (SNAPC5)	NP_006040.1:n.*190T>C
NR_138061.2:n.656T>C (SNAPC5)