Canonical Allele Identifier: CA490862026

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782869T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490531T>G , CM000677.2:g.66490531T>G	GRCh38
NC_000015.9:g.66782869T>G , CM000677.1:g.66782869T>G	GRCh37
NC_000015.8:g.64569923T>G	NCBI36
NG_008305.1:g.108659T>G , LRG_725:g.108659T>G
NG_051234.1:g.12285A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*146T>G (MAP2K1)	ENSP00000508681.1:n.*146T>G
ENST00000685172.1:c.1052T>G (MAP2K1)	ENSP00000509604.1:p.Leu351Arg
ENST00000685763.1:c.951T>G (MAP2K1)	ENSP00000509016.1:p.Ala317=
ENST00000686347.1:c.771T>G (MAP2K1)	ENSP00000509027.1:p.Ala257=
ENST00000687191.1:n.3378T>G (MAP2K1)
ENST00000687481.1:n.513T>G (MAP2K1)
ENST00000688689.1:n.853T>G (MAP2K1)
ENST00000689951.1:c.1149T>G (MAP2K1)	ENSP00000509308.1:p.Ala383=
ENST00000691077.1:c.*2257T>G (MAP2K1)	ENSP00000509843.1:n.*2257T>G
ENST00000691576.1:c.969T>G (MAP2K1)	ENSP00000510066.1:p.Ala323=
ENST00000691937.1:c.*79T>G (MAP2K1)	ENSP00000508768.1:n.*79T>G
ENST00000692487.1:c.*2698T>G (MAP2K1)	ENSP00000509534.1:n.*2698T>G
ENST00000692683.1:c.1032T>G (MAP2K1)	ENSP00000508437.1:p.Ala344=
ENST00000693150.1:c.954T>G (MAP2K1)	ENSP00000510309.1:p.Ala318=
ENST00000307102.10:c.1098T>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Ala366=
ENST00000307102.9:c.1098T>G (MAP2K1)	ENSP00000302486.4:p.Ala366=
ENST00000395589.6:c.*208A>C (SNAPC5)	ENSP00000378954.2:n.*208A>C
ENST00000563480.6:c.*208A>C (SNAPC5)	ENSP00000457892.1:n.*208A>C
ENST00000566326.1:c.570T>G (MAP2K1)	ENSP00000456438.1:p.Ala190=
NM_002755.3:c.1098T>G , LRG_725t1:c.1098T>G (MAP2K1)	NP_002746.1:p.Ala366=
NM_006049.2:c.*208A>C (SNAPC5)	NP_006040.1:n.*208A>C
XM_011521783.1:c.1032T>G (MAP2K1)	XP_011520085.1:p.Ala344=
NM_006049.3:c.*208A>C (SNAPC5)	NP_006040.1:n.*208A>C
NR_138061.1:n.727A>C (SNAPC5)
XM_011521783.3:c.1032T>G (MAP2K1)	XP_011520085.1:p.Ala344=
XM_017022411.2:c.1020T>G (MAP2K1)	XP_016877900.1:p.Ala340=
XM_017022412.1:c.954T>G (MAP2K1)	XP_016877901.1:p.Ala318=
XM_017022413.1:c.570T>G (MAP2K1)	XP_016877902.1:p.Ala190=
NM_002755.4:c.1098T>G (MAP2K1) MANE Select	NP_002746.1:p.Ala366=
NM_006049.4:c.*208A>C (SNAPC5)	NP_006040.1:n.*208A>C
NR_138061.2:n.674A>C (SNAPC5)