Canonical Allele Identifier: CA392938770

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782840G>C (hg19) ; chr15:g.66490502G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490502G>C , CM000677.2:g.66490502G>C	GRCh38
NC_000015.9:g.66782840G>C , CM000677.1:g.66782840G>C	GRCh37
NC_000015.8:g.64569894G>C	NCBI36
NG_008305.1:g.108630G>C , LRG_725:g.108630G>C
NG_051234.1:g.12314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*117G>C (MAP2K1)	ENSP00000508681.1:n.*117G>C
ENST00000685172.1:c.1023G>C (MAP2K1)	ENSP00000509604.1:p.Trp341Cys
ENST00000685763.1:c.922G>C (MAP2K1)	ENSP00000509016.1:p.Val308Leu
ENST00000686347.1:c.742G>C (MAP2K1)	ENSP00000509027.1:p.Val248Leu
ENST00000687191.1:n.3349G>C (MAP2K1)
ENST00000687481.1:n.484G>C (MAP2K1)
ENST00000688689.1:n.824G>C (MAP2K1)
ENST00000689951.1:c.1120G>C (MAP2K1)	ENSP00000509308.1:p.Val374Leu
ENST00000691077.1:c.*2228G>C (MAP2K1)	ENSP00000509843.1:n.*2228G>C
ENST00000691576.1:c.940G>C (MAP2K1)	ENSP00000510066.1:p.Val314Leu
ENST00000691937.1:c.*50G>C (MAP2K1)	ENSP00000508768.1:n.*50G>C
ENST00000692487.1:c.*2669G>C (MAP2K1)	ENSP00000509534.1:n.*2669G>C
ENST00000692683.1:c.1003G>C (MAP2K1)	ENSP00000508437.1:p.Val335Leu
ENST00000693150.1:c.925G>C (MAP2K1)	ENSP00000510309.1:p.Val309Leu
ENST00000307102.10:c.1069G>C (MAP2K1) MANE Select	ENSP00000302486.5:p.Val357Leu
ENST00000307102.9:c.1069G>C (MAP2K1)	ENSP00000302486.4:p.Val357Leu
ENST00000395589.6:c.*237C>G (SNAPC5)	ENSP00000378954.2:n.*237C>G
ENST00000563480.6:c.*237C>G (SNAPC5)	ENSP00000457892.1:n.*237C>G
ENST00000566326.1:c.541G>C (MAP2K1)	ENSP00000456438.1:p.Val181Leu
NM_002755.3:c.1069G>C , LRG_725t1:c.1069G>C (MAP2K1)	NP_002746.1:p.Val357Leu
NM_006049.2:c.*237C>G (SNAPC5)	NP_006040.1:n.*237C>G
XM_011521783.1:c.1003G>C (MAP2K1)	XP_011520085.1:p.Val335Leu
NM_006049.3:c.*237C>G (SNAPC5)	NP_006040.1:n.*237C>G
NR_138061.1:n.756C>G (SNAPC5)
XM_011521783.3:c.1003G>C (MAP2K1)	XP_011520085.1:p.Val335Leu
XM_017022411.2:c.991G>C (MAP2K1)	XP_016877900.1:p.Val331Leu
XM_017022412.1:c.925G>C (MAP2K1)	XP_016877901.1:p.Val309Leu
XM_017022413.1:c.541G>C (MAP2K1)	XP_016877902.1:p.Val181Leu
NM_002755.4:c.1069G>C (MAP2K1) MANE Select	NP_002746.1:p.Val357Leu
NM_006049.4:c.*237C>G (SNAPC5)	NP_006040.1:n.*237C>G
NR_138061.2:n.703C>G (SNAPC5)