Canonical Allele Identifier: CA392938847

Gene: MAP2K1 SNAPC5

Linked Data

• gnomAD v4: 15-66490520-A-G
• MyVariant Identifiers: chr15:g.66782858A>G (hg19) ; chr15:g.66490520A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490520A>G , CM000677.2:g.66490520A>G	GRCh38
NC_000015.9:g.66782858A>G , CM000677.1:g.66782858A>G	GRCh37
NC_000015.8:g.64569912A>G	NCBI36
NG_008305.1:g.108648A>G , LRG_725:g.108648A>G
NG_051234.1:g.12296T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*135A>G (MAP2K1)	ENSP00000508681.1:n.*135A>G
ENST00000685172.1:c.1041A>G (MAP2K1)	ENSP00000509604.1:p.Arg347=
ENST00000685763.1:c.940A>G (MAP2K1)	ENSP00000509016.1:p.Arg314Gly
ENST00000686347.1:c.760A>G (MAP2K1)	ENSP00000509027.1:p.Arg254Gly
ENST00000687191.1:n.3367A>G (MAP2K1)
ENST00000687481.1:n.502A>G (MAP2K1)
ENST00000688689.1:n.842A>G (MAP2K1)
ENST00000689951.1:c.1138A>G (MAP2K1)	ENSP00000509308.1:p.Arg380Gly
ENST00000691077.1:c.*2246A>G (MAP2K1)	ENSP00000509843.1:n.*2246A>G
ENST00000691576.1:c.958A>G (MAP2K1)	ENSP00000510066.1:p.Arg320Gly
ENST00000691937.1:c.*68A>G (MAP2K1)	ENSP00000508768.1:n.*68A>G
ENST00000692487.1:c.*2687A>G (MAP2K1)	ENSP00000509534.1:n.*2687A>G
ENST00000692683.1:c.1021A>G (MAP2K1)	ENSP00000508437.1:p.Arg341Gly
ENST00000693150.1:c.943A>G (MAP2K1)	ENSP00000510309.1:p.Arg315Gly
ENST00000307102.10:c.1087A>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Arg363Gly
ENST00000307102.9:c.1087A>G (MAP2K1)	ENSP00000302486.4:p.Arg363Gly
ENST00000395589.6:c.*219T>C (SNAPC5)	ENSP00000378954.2:n.*219T>C
ENST00000563480.6:c.*219T>C (SNAPC5)	ENSP00000457892.1:n.*219T>C
ENST00000566326.1:c.559A>G (MAP2K1)	ENSP00000456438.1:p.Arg187Gly
NM_002755.3:c.1087A>G , LRG_725t1:c.1087A>G (MAP2K1)	NP_002746.1:p.Arg363Gly
NM_006049.2:c.*219T>C (SNAPC5)	NP_006040.1:n.*219T>C
XM_011521783.1:c.1021A>G (MAP2K1)	XP_011520085.1:p.Arg341Gly
NM_006049.3:c.*219T>C (SNAPC5)	NP_006040.1:n.*219T>C
NR_138061.1:n.738T>C (SNAPC5)
XM_011521783.3:c.1021A>G (MAP2K1)	XP_011520085.1:p.Arg341Gly
XM_017022411.2:c.1009A>G (MAP2K1)	XP_016877900.1:p.Arg337Gly
XM_017022412.1:c.943A>G (MAP2K1)	XP_016877901.1:p.Arg315Gly
XM_017022413.1:c.559A>G (MAP2K1)	XP_016877902.1:p.Arg187Gly
NM_002755.4:c.1087A>G (MAP2K1) MANE Select	NP_002746.1:p.Arg363Gly
NM_006049.4:c.*219T>C (SNAPC5)	NP_006040.1:n.*219T>C
NR_138061.2:n.685T>C (SNAPC5)