Canonical Allele Identifier: CA392938956

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782882T>C (hg19) ; chr15:g.66490544T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490544T>C , CM000677.2:g.66490544T>C	GRCh38
NC_000015.9:g.66782882T>C , CM000677.1:g.66782882T>C	GRCh37
NC_000015.8:g.64569936T>C	NCBI36
NG_008305.1:g.108672T>C , LRG_725:g.108672T>C
NG_051234.1:g.12272A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*159T>C (MAP2K1)	ENSP00000508681.1:n.*159T>C
ENST00000685172.1:c.1065T>C (MAP2K1)	ENSP00000509604.1:p.Ile355=
ENST00000685763.1:c.964T>C (MAP2K1)	ENSP00000509016.1:p.Phe322Leu
ENST00000686347.1:c.784T>C (MAP2K1)	ENSP00000509027.1:p.Phe262Leu
ENST00000687191.1:n.3391T>C (MAP2K1)
ENST00000687481.1:n.526T>C (MAP2K1)
ENST00000688689.1:n.866T>C (MAP2K1)
ENST00000689951.1:c.1162T>C (MAP2K1)	ENSP00000509308.1:p.Phe388Leu
ENST00000691077.1:c.*2270T>C (MAP2K1)	ENSP00000509843.1:n.*2270T>C
ENST00000691576.1:c.982T>C (MAP2K1)	ENSP00000510066.1:p.Phe328Leu
ENST00000691937.1:c.*92T>C (MAP2K1)	ENSP00000508768.1:n.*92T>C
ENST00000692487.1:c.*2711T>C (MAP2K1)	ENSP00000509534.1:n.*2711T>C
ENST00000692683.1:c.1045T>C (MAP2K1)	ENSP00000508437.1:p.Phe349Leu
ENST00000693150.1:c.967T>C (MAP2K1)	ENSP00000510309.1:p.Phe323Leu
ENST00000307102.10:c.1111T>C (MAP2K1) MANE Select	ENSP00000302486.5:p.Phe371Leu
ENST00000307102.9:c.1111T>C (MAP2K1)	ENSP00000302486.4:p.Phe371Leu
ENST00000395589.6:c.*195A>G (SNAPC5)	ENSP00000378954.2:n.*195A>G
ENST00000563480.6:c.*195A>G (SNAPC5)	ENSP00000457892.1:n.*195A>G
ENST00000566326.1:c.583T>C (MAP2K1)	ENSP00000456438.1:p.Phe195Leu
NM_002755.3:c.1111T>C , LRG_725t1:c.1111T>C (MAP2K1)	NP_002746.1:p.Phe371Leu
NM_006049.2:c.*195A>G (SNAPC5)	NP_006040.1:n.*195A>G
XM_011521783.1:c.1045T>C (MAP2K1)	XP_011520085.1:p.Phe349Leu
NM_006049.3:c.*195A>G (SNAPC5)	NP_006040.1:n.*195A>G
NR_138061.1:n.714A>G (SNAPC5)
XM_011521783.3:c.1045T>C (MAP2K1)	XP_011520085.1:p.Phe349Leu
XM_017022411.2:c.1033T>C (MAP2K1)	XP_016877900.1:p.Phe345Leu
XM_017022412.1:c.967T>C (MAP2K1)	XP_016877901.1:p.Phe323Leu
XM_017022413.1:c.583T>C (MAP2K1)	XP_016877902.1:p.Phe195Leu
NM_002755.4:c.1111T>C (MAP2K1) MANE Select	NP_002746.1:p.Phe371Leu
NM_006049.4:c.*195A>G (SNAPC5)	NP_006040.1:n.*195A>G
NR_138061.2:n.661A>G (SNAPC5)