Canonical Allele Identifier: CA392938987

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782888G>T (hg19) ; chr15:g.66490550G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490550G>T , CM000677.2:g.66490550G>T	GRCh38
NC_000015.9:g.66782888G>T , CM000677.1:g.66782888G>T	GRCh37
NC_000015.8:g.64569942G>T	NCBI36
NG_008305.1:g.108678G>T , LRG_725:g.108678G>T
NG_051234.1:g.12266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*165G>T (MAP2K1)	ENSP00000508681.1:n.*165G>T
ENST00000685172.1:c.1071G>T (MAP2K1)	ENSP00000509604.1:p.Gln357His
ENST00000685763.1:c.970G>T (MAP2K1)	ENSP00000509016.1:p.Gly324Cys
ENST00000686347.1:c.790G>T (MAP2K1)	ENSP00000509027.1:p.Gly264Cys
ENST00000687191.1:n.3397G>T (MAP2K1)
ENST00000687481.1:n.532G>T (MAP2K1)
ENST00000688689.1:n.872G>T (MAP2K1)
ENST00000689951.1:c.1168G>T (MAP2K1)	ENSP00000509308.1:p.Gly390Cys
ENST00000691077.1:c.*2276G>T (MAP2K1)	ENSP00000509843.1:n.*2276G>T
ENST00000691576.1:c.988G>T (MAP2K1)	ENSP00000510066.1:p.Gly330Cys
ENST00000691937.1:c.*98G>T (MAP2K1)	ENSP00000508768.1:n.*98G>T
ENST00000692487.1:c.*2717G>T (MAP2K1)	ENSP00000509534.1:n.*2717G>T
ENST00000692683.1:c.1051G>T (MAP2K1)	ENSP00000508437.1:p.Gly351Cys
ENST00000693150.1:c.973G>T (MAP2K1)	ENSP00000510309.1:p.Gly325Cys
ENST00000307102.10:c.1117G>T (MAP2K1) MANE Select	ENSP00000302486.5:p.Gly373Cys
ENST00000307102.9:c.1117G>T (MAP2K1)	ENSP00000302486.4:p.Gly373Cys
ENST00000395589.6:c.*189C>A (SNAPC5)	ENSP00000378954.2:n.*189C>A
ENST00000563480.6:c.*189C>A (SNAPC5)	ENSP00000457892.1:n.*189C>A
ENST00000566326.1:c.589G>T (MAP2K1)	ENSP00000456438.1:p.Gly197Cys
NM_002755.3:c.1117G>T , LRG_725t1:c.1117G>T (MAP2K1)	NP_002746.1:p.Gly373Cys
NM_006049.2:c.*189C>A (SNAPC5)	NP_006040.1:n.*189C>A
XM_011521783.1:c.1051G>T (MAP2K1)	XP_011520085.1:p.Gly351Cys
NM_006049.3:c.*189C>A (SNAPC5)	NP_006040.1:n.*189C>A
NR_138061.1:n.708C>A (SNAPC5)
XM_011521783.3:c.1051G>T (MAP2K1)	XP_011520085.1:p.Gly351Cys
XM_017022411.2:c.1039G>T (MAP2K1)	XP_016877900.1:p.Gly347Cys
XM_017022412.1:c.973G>T (MAP2K1)	XP_016877901.1:p.Gly325Cys
XM_017022413.1:c.589G>T (MAP2K1)	XP_016877902.1:p.Gly197Cys
NM_002755.4:c.1117G>T (MAP2K1) MANE Select	NP_002746.1:p.Gly373Cys
NM_006049.4:c.*189C>A (SNAPC5)	NP_006040.1:n.*189C>A
NR_138061.2:n.655C>A (SNAPC5)