Canonical Allele Identifier: CA392939063

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782907T>G (hg19) ; chr15:g.66490569T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490569T>G , CM000677.2:g.66490569T>G	GRCh38
NC_000015.9:g.66782907T>G , CM000677.1:g.66782907T>G	GRCh37
NC_000015.8:g.64569961T>G	NCBI36
NG_008305.1:g.108697T>G , LRG_725:g.108697T>G
NG_051234.1:g.12247A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*184T>G (MAP2K1)	ENSP00000508681.1:n.*184T>G
ENST00000685172.1:c.1090T>G (MAP2K1)	ENSP00000509604.1:p.Ser364Ala
ENST00000685763.1:c.989T>G (MAP2K1)	ENSP00000509016.1:p.Ile330Ser
ENST00000686347.1:c.809T>G (MAP2K1)	ENSP00000509027.1:p.Ile270Ser
ENST00000687191.1:n.3416T>G (MAP2K1)
ENST00000687481.1:n.551T>G (MAP2K1)
ENST00000688689.1:n.891T>G (MAP2K1)
ENST00000689951.1:c.1187T>G (MAP2K1)	ENSP00000509308.1:p.Ile396Ser
ENST00000691077.1:c.*2295T>G (MAP2K1)	ENSP00000509843.1:n.*2295T>G
ENST00000691576.1:c.1007T>G (MAP2K1)	ENSP00000510066.1:p.Ile336Ser
ENST00000691937.1:c.*117T>G (MAP2K1)	ENSP00000508768.1:n.*117T>G
ENST00000692487.1:c.*2736T>G (MAP2K1)	ENSP00000509534.1:n.*2736T>G
ENST00000692683.1:c.1070T>G (MAP2K1)	ENSP00000508437.1:p.Ile357Ser
ENST00000693150.1:c.992T>G (MAP2K1)	ENSP00000510309.1:p.Ile331Ser
ENST00000307102.10:c.1136T>G (MAP2K1) MANE Select	ENSP00000302486.5:p.Ile379Ser
ENST00000307102.9:c.1136T>G (MAP2K1)	ENSP00000302486.4:p.Ile379Ser
ENST00000395589.6:c.*170A>C (SNAPC5)	ENSP00000378954.2:n.*170A>C
ENST00000563480.6:c.*170A>C (SNAPC5)	ENSP00000457892.1:n.*170A>C
ENST00000566326.1:c.608T>G (MAP2K1)	ENSP00000456438.1:p.Ile203Ser
NM_002755.3:c.1136T>G , LRG_725t1:c.1136T>G (MAP2K1)	NP_002746.1:p.Ile379Ser
NM_006049.2:c.*170A>C (SNAPC5)	NP_006040.1:n.*170A>C
XM_011521783.1:c.1070T>G (MAP2K1)	XP_011520085.1:p.Ile357Ser
NM_006049.3:c.*170A>C (SNAPC5)	NP_006040.1:n.*170A>C
NR_138061.1:n.689A>C (SNAPC5)
XM_011521783.3:c.1070T>G (MAP2K1)	XP_011520085.1:p.Ile357Ser
XM_017022411.2:c.1058T>G (MAP2K1)	XP_016877900.1:p.Ile353Ser
XM_017022412.1:c.992T>G (MAP2K1)	XP_016877901.1:p.Ile331Ser
XM_017022413.1:c.608T>G (MAP2K1)	XP_016877902.1:p.Ile203Ser
NM_002755.4:c.1136T>G (MAP2K1) MANE Select	NP_002746.1:p.Ile379Ser
NM_006049.4:c.*170A>C (SNAPC5)	NP_006040.1:n.*170A>C
NR_138061.2:n.636A>C (SNAPC5)