Canonical Allele Identifier: CA392938969

Gene: MAP2K1 SNAPC5

Linked Data

• ClinVar Variation Id: 2997336
• ClinVar RCV Id: RCV003851455
• MyVariant Identifiers: chr15:g.66782884T>G (hg19) ; chr15:g.66490546T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490546T>G , CM000677.2:g.66490546T>G	GRCh38
NC_000015.9:g.66782884T>G , CM000677.1:g.66782884T>G	GRCh37
NC_000015.8:g.64569938T>G	NCBI36
NG_008305.1:g.108674T>G , LRG_725:g.108674T>G
NG_051234.1:g.12270A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*161T>G (MAP2K1)	ENSP00000508681.1:n.*161T>G
ENST00000685172.1:c.1067T>G (MAP2K1)	ENSP00000509604.1:p.Leu356Trp
ENST00000685763.1:c.966T>G (MAP2K1)	ENSP00000509016.1:p.Phe322Leu
ENST00000686347.1:c.786T>G (MAP2K1)	ENSP00000509027.1:p.Phe262Leu
ENST00000687191.1:n.3393T>G (MAP2K1)
ENST00000687481.1:n.528T>G (MAP2K1)
ENST00000688689.1:n.868T>G (MAP2K1)
ENST00000689951.1:c.1164T>G (MAP2K1)	ENSP00000509308.1:p.Phe388Leu
ENST00000691077.1:c.*2272T>G (MAP2K1)	ENSP00000509843.1:n.*2272T>G
ENST00000691576.1:c.984T>G (MAP2K1)	ENSP00000510066.1:p.Phe328Leu
ENST00000691937.1:c.*94T>G (MAP2K1)	ENSP00000508768.1:n.*94T>G
ENST00000692487.1:c.*2713T>G (MAP2K1)	ENSP00000509534.1:n.*2713T>G
ENST00000692683.1:c.1047T>G (MAP2K1)	ENSP00000508437.1:p.Phe349Leu
ENST00000693150.1:c.969T>G (MAP2K1)	ENSP00000510309.1:p.Phe323Leu
ENST00000307102.10:c.1113T>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Phe371Leu
ENST00000307102.9:c.1113T>G (MAP2K1)	ENSP00000302486.4:p.Phe371Leu
ENST00000395589.6:c.*193A>C (SNAPC5)	ENSP00000378954.2:n.*193A>C
ENST00000563480.6:c.*193A>C (SNAPC5)	ENSP00000457892.1:n.*193A>C
ENST00000566326.1:c.585T>G (MAP2K1)	ENSP00000456438.1:p.Phe195Leu
NM_002755.3:c.1113T>G , LRG_725t1:c.1113T>G (MAP2K1)	NP_002746.1:p.Phe371Leu
NM_006049.2:c.*193A>C (SNAPC5)	NP_006040.1:n.*193A>C
XM_011521783.1:c.1047T>G (MAP2K1)	XP_011520085.1:p.Phe349Leu
NM_006049.3:c.*193A>C (SNAPC5)	NP_006040.1:n.*193A>C
NR_138061.1:n.712A>C (SNAPC5)
XM_011521783.3:c.1047T>G (MAP2K1)	XP_011520085.1:p.Phe349Leu
XM_017022411.2:c.1035T>G (MAP2K1)	XP_016877900.1:p.Phe345Leu
XM_017022412.1:c.969T>G (MAP2K1)	XP_016877901.1:p.Phe323Leu
XM_017022413.1:c.585T>G (MAP2K1)	XP_016877902.1:p.Phe195Leu
NM_002755.4:c.1113T>G (MAP2K1) MANE Select	NP_002746.1:p.Phe371Leu
NM_006049.4:c.*193A>C (SNAPC5)	NP_006040.1:n.*193A>C
NR_138061.2:n.659A>C (SNAPC5)