Canonical Allele Identifier: CA392939107

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782918C>A (hg19) ; chr15:g.66490580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490580C>A , CM000677.2:g.66490580C>A	GRCh38
NC_000015.9:g.66782918C>A , CM000677.1:g.66782918C>A	GRCh37
NC_000015.8:g.64569972C>A	NCBI36
NG_008305.1:g.108708C>A , LRG_725:g.108708C>A
NG_051234.1:g.12236G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*195C>A (MAP2K1)	ENSP00000508681.1:n.*195C>A
ENST00000685172.1:c.1101C>A (MAP2K1)	ENSP00000509604.1:p.Thr367=
ENST00000685763.1:c.1000C>A (MAP2K1)	ENSP00000509016.1:p.Gln334Lys
ENST00000686347.1:c.820C>A (MAP2K1)	ENSP00000509027.1:p.Gln274Lys
ENST00000687191.1:n.3427C>A (MAP2K1)
ENST00000687481.1:n.562C>A (MAP2K1)
ENST00000688689.1:n.902C>A (MAP2K1)
ENST00000689951.1:c.1198C>A (MAP2K1)	ENSP00000509308.1:p.Gln400Lys
ENST00000691077.1:c.*2306C>A (MAP2K1)	ENSP00000509843.1:n.*2306C>A
ENST00000691576.1:c.1018C>A (MAP2K1)	ENSP00000510066.1:p.Gln340Lys
ENST00000691937.1:c.*128C>A (MAP2K1)	ENSP00000508768.1:n.*128C>A
ENST00000692487.1:c.*2747C>A (MAP2K1)	ENSP00000509534.1:n.*2747C>A
ENST00000692683.1:c.1081C>A (MAP2K1)	ENSP00000508437.1:p.Gln361Lys
ENST00000693150.1:c.1003C>A (MAP2K1)	ENSP00000510309.1:p.Gln335Lys
ENST00000307102.10:c.1147C>A (MAP2K1) MANE Select	ENSP00000302486.5:p.Gln383Lys
ENST00000307102.9:c.1147C>A (MAP2K1)	ENSP00000302486.4:p.Gln383Lys
ENST00000395589.6:c.*159G>T (SNAPC5)	ENSP00000378954.2:n.*159G>T
ENST00000563480.6:c.*159G>T (SNAPC5)	ENSP00000457892.1:n.*159G>T
ENST00000566326.1:c.619C>A (MAP2K1)	ENSP00000456438.1:p.Gln207Lys
NM_002755.3:c.1147C>A , LRG_725t1:c.1147C>A (MAP2K1)	NP_002746.1:p.Gln383Lys
NM_006049.2:c.*159G>T (SNAPC5)	NP_006040.1:n.*159G>T
XM_011521783.1:c.1081C>A (MAP2K1)	XP_011520085.1:p.Gln361Lys
NM_006049.3:c.*159G>T (SNAPC5)	NP_006040.1:n.*159G>T
NR_138061.1:n.678G>T (SNAPC5)
XM_011521783.3:c.1081C>A (MAP2K1)	XP_011520085.1:p.Gln361Lys
XM_017022411.2:c.1069C>A (MAP2K1)	XP_016877900.1:p.Gln357Lys
XM_017022412.1:c.1003C>A (MAP2K1)	XP_016877901.1:p.Gln335Lys
XM_017022413.1:c.619C>A (MAP2K1)	XP_016877902.1:p.Gln207Lys
NM_002755.4:c.1147C>A (MAP2K1) MANE Select	NP_002746.1:p.Gln383Lys
NM_006049.4:c.*159G>T (SNAPC5)	NP_006040.1:n.*159G>T
NR_138061.2:n.625G>T (SNAPC5)