Canonical Allele Identifier: CA392938998

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782891T>G (hg19) ; chr15:g.66490553T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490553T>G , CM000677.2:g.66490553T>G	GRCh38
NC_000015.9:g.66782891T>G , CM000677.1:g.66782891T>G	GRCh37
NC_000015.8:g.64569945T>G	NCBI36
NG_008305.1:g.108681T>G , LRG_725:g.108681T>G
NG_051234.1:g.12263A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*168T>G (MAP2K1)	ENSP00000508681.1:n.*168T>G
ENST00000685172.1:c.1074T>G (MAP2K1)	ENSP00000509604.1:p.Val358=
ENST00000685763.1:c.973T>G (MAP2K1)	ENSP00000509016.1:p.Trp325Gly
ENST00000686347.1:c.793T>G (MAP2K1)	ENSP00000509027.1:p.Trp265Gly
ENST00000687191.1:n.3400T>G (MAP2K1)
ENST00000687481.1:n.535T>G (MAP2K1)
ENST00000688689.1:n.875T>G (MAP2K1)
ENST00000689951.1:c.1171T>G (MAP2K1)	ENSP00000509308.1:p.Trp391Gly
ENST00000691077.1:c.*2279T>G (MAP2K1)	ENSP00000509843.1:n.*2279T>G
ENST00000691576.1:c.991T>G (MAP2K1)	ENSP00000510066.1:p.Trp331Gly
ENST00000691937.1:c.*101T>G (MAP2K1)	ENSP00000508768.1:n.*101T>G
ENST00000692487.1:c.*2720T>G (MAP2K1)	ENSP00000509534.1:n.*2720T>G
ENST00000692683.1:c.1054T>G (MAP2K1)	ENSP00000508437.1:p.Trp352Gly
ENST00000693150.1:c.976T>G (MAP2K1)	ENSP00000510309.1:p.Trp326Gly
ENST00000307102.10:c.1120T>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Trp374Gly
ENST00000307102.9:c.1120T>G (MAP2K1)	ENSP00000302486.4:p.Trp374Gly
ENST00000395589.6:c.*186A>C (SNAPC5)	ENSP00000378954.2:n.*186A>C
ENST00000563480.6:c.*186A>C (SNAPC5)	ENSP00000457892.1:n.*186A>C
ENST00000566326.1:c.592T>G (MAP2K1)	ENSP00000456438.1:p.Trp198Gly
NM_002755.3:c.1120T>G , LRG_725t1:c.1120T>G (MAP2K1)	NP_002746.1:p.Trp374Gly
NM_006049.2:c.*186A>C (SNAPC5)	NP_006040.1:n.*186A>C
XM_011521783.1:c.1054T>G (MAP2K1)	XP_011520085.1:p.Trp352Gly
NM_006049.3:c.*186A>C (SNAPC5)	NP_006040.1:n.*186A>C
NR_138061.1:n.705A>C (SNAPC5)
XM_011521783.3:c.1054T>G (MAP2K1)	XP_011520085.1:p.Trp352Gly
XM_017022411.2:c.1042T>G (MAP2K1)	XP_016877900.1:p.Trp348Gly
XM_017022412.1:c.976T>G (MAP2K1)	XP_016877901.1:p.Trp326Gly
XM_017022413.1:c.592T>G (MAP2K1)	XP_016877902.1:p.Trp198Gly
NM_002755.4:c.1120T>G (MAP2K1) MANE Select	NP_002746.1:p.Trp374Gly
NM_006049.4:c.*186A>C (SNAPC5)	NP_006040.1:n.*186A>C
NR_138061.2:n.652A>C (SNAPC5)