Canonical Allele Identifier: CA392939059

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782906A>T (hg19) ; chr15:g.66490568A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490568A>T , CM000677.2:g.66490568A>T	GRCh38
NC_000015.9:g.66782906A>T , CM000677.1:g.66782906A>T	GRCh37
NC_000015.8:g.64569960A>T	NCBI36
NG_008305.1:g.108696A>T , LRG_725:g.108696A>T
NG_051234.1:g.12248T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*183A>T (MAP2K1)	ENSP00000508681.1:n.*183A>T
ENST00000685172.1:c.1089A>T (MAP2K1)	ENSP00000509604.1:p.Pro363=
ENST00000685763.1:c.988A>T (MAP2K1)	ENSP00000509016.1:p.Ile330Phe
ENST00000686347.1:c.808A>T (MAP2K1)	ENSP00000509027.1:p.Ile270Phe
ENST00000687191.1:n.3415A>T (MAP2K1)
ENST00000687481.1:n.550A>T (MAP2K1)
ENST00000688689.1:n.890A>T (MAP2K1)
ENST00000689951.1:c.1186A>T (MAP2K1)	ENSP00000509308.1:p.Ile396Phe
ENST00000691077.1:c.*2294A>T (MAP2K1)	ENSP00000509843.1:n.*2294A>T
ENST00000691576.1:c.1006A>T (MAP2K1)	ENSP00000510066.1:p.Ile336Phe
ENST00000691937.1:c.*116A>T (MAP2K1)	ENSP00000508768.1:n.*116A>T
ENST00000692487.1:c.*2735A>T (MAP2K1)	ENSP00000509534.1:n.*2735A>T
ENST00000692683.1:c.1069A>T (MAP2K1)	ENSP00000508437.1:p.Ile357Phe
ENST00000693150.1:c.991A>T (MAP2K1)	ENSP00000510309.1:p.Ile331Phe
ENST00000307102.10:c.1135A>T (MAP2K1) MANE Select	ENSP00000302486.5:p.Ile379Phe
ENST00000307102.9:c.1135A>T (MAP2K1)	ENSP00000302486.4:p.Ile379Phe
ENST00000395589.6:c.*171T>A (SNAPC5)	ENSP00000378954.2:n.*171T>A
ENST00000563480.6:c.*171T>A (SNAPC5)	ENSP00000457892.1:n.*171T>A
ENST00000566326.1:c.607A>T (MAP2K1)	ENSP00000456438.1:p.Ile203Phe
NM_002755.3:c.1135A>T , LRG_725t1:c.1135A>T (MAP2K1)	NP_002746.1:p.Ile379Phe
NM_006049.2:c.*171T>A (SNAPC5)	NP_006040.1:n.*171T>A
XM_011521783.1:c.1069A>T (MAP2K1)	XP_011520085.1:p.Ile357Phe
NM_006049.3:c.*171T>A (SNAPC5)	NP_006040.1:n.*171T>A
NR_138061.1:n.690T>A (SNAPC5)
XM_011521783.3:c.1069A>T (MAP2K1)	XP_011520085.1:p.Ile357Phe
XM_017022411.2:c.1057A>T (MAP2K1)	XP_016877900.1:p.Ile353Phe
XM_017022412.1:c.991A>T (MAP2K1)	XP_016877901.1:p.Ile331Phe
XM_017022413.1:c.607A>T (MAP2K1)	XP_016877902.1:p.Ile203Phe
NM_002755.4:c.1135A>T (MAP2K1) MANE Select	NP_002746.1:p.Ile379Phe
NM_006049.4:c.*171T>A (SNAPC5)	NP_006040.1:n.*171T>A
NR_138061.2:n.637T>A (SNAPC5)