Canonical Allele Identifier: CA490862015

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782848T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490510T>G , CM000677.2:g.66490510T>G	GRCh38
NC_000015.9:g.66782848T>G , CM000677.1:g.66782848T>G	GRCh37
NC_000015.8:g.64569902T>G	NCBI36
NG_008305.1:g.108638T>G , LRG_725:g.108638T>G
NG_051234.1:g.12306A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*125T>G (MAP2K1)	ENSP00000508681.1:n.*125T>G
ENST00000685172.1:c.1031T>G (MAP2K1)	ENSP00000509604.1:p.Leu344Arg
ENST00000685763.1:c.930T>G (MAP2K1)	ENSP00000509016.1:p.Ala310=
ENST00000686347.1:c.750T>G (MAP2K1)	ENSP00000509027.1:p.Ala250=
ENST00000687191.1:n.3357T>G (MAP2K1)
ENST00000687481.1:n.492T>G (MAP2K1)
ENST00000688689.1:n.832T>G (MAP2K1)
ENST00000689951.1:c.1128T>G (MAP2K1)	ENSP00000509308.1:p.Ala376=
ENST00000691077.1:c.*2236T>G (MAP2K1)	ENSP00000509843.1:n.*2236T>G
ENST00000691576.1:c.948T>G (MAP2K1)	ENSP00000510066.1:p.Ala316=
ENST00000691937.1:c.*58T>G (MAP2K1)	ENSP00000508768.1:n.*58T>G
ENST00000692487.1:c.*2677T>G (MAP2K1)	ENSP00000509534.1:n.*2677T>G
ENST00000692683.1:c.1011T>G (MAP2K1)	ENSP00000508437.1:p.Ala337=
ENST00000693150.1:c.933T>G (MAP2K1)	ENSP00000510309.1:p.Ala311=
ENST00000307102.10:c.1077T>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Ala359=
ENST00000307102.9:c.1077T>G (MAP2K1)	ENSP00000302486.4:p.Ala359=
ENST00000395589.6:c.*229A>C (SNAPC5)	ENSP00000378954.2:n.*229A>C
ENST00000563480.6:c.*229A>C (SNAPC5)	ENSP00000457892.1:n.*229A>C
ENST00000566326.1:c.549T>G (MAP2K1)	ENSP00000456438.1:p.Ala183=
NM_002755.3:c.1077T>G , LRG_725t1:c.1077T>G (MAP2K1)	NP_002746.1:p.Ala359=
NM_006049.2:c.*229A>C (SNAPC5)	NP_006040.1:n.*229A>C
XM_011521783.1:c.1011T>G (MAP2K1)	XP_011520085.1:p.Ala337=
NM_006049.3:c.*229A>C (SNAPC5)	NP_006040.1:n.*229A>C
NR_138061.1:n.748A>C (SNAPC5)
XM_011521783.3:c.1011T>G (MAP2K1)	XP_011520085.1:p.Ala337=
XM_017022411.2:c.999T>G (MAP2K1)	XP_016877900.1:p.Ala333=
XM_017022412.1:c.933T>G (MAP2K1)	XP_016877901.1:p.Ala311=
XM_017022413.1:c.549T>G (MAP2K1)	XP_016877902.1:p.Ala183=
NM_002755.4:c.1077T>G (MAP2K1) MANE Select	NP_002746.1:p.Ala359=
NM_006049.4:c.*229A>C (SNAPC5)	NP_006040.1:n.*229A>C
NR_138061.2:n.695A>C (SNAPC5)