Canonical Allele Identifier: CA392938812

Gene: MAP2K1 SNAPC5

Linked Data

• MyVariant Identifiers: chr15:g.66782850T>C (hg19) ; chr15:g.66490512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490512T>C , CM000677.2:g.66490512T>C	GRCh38
NC_000015.9:g.66782850T>C , CM000677.1:g.66782850T>C	GRCh37
NC_000015.8:g.64569904T>C	NCBI36
NG_008305.1:g.108640T>C , LRG_725:g.108640T>C
NG_051234.1:g.12304A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*127T>C (MAP2K1)	ENSP00000508681.1:n.*127T>C
ENST00000685172.1:c.1033T>C (MAP2K1)	ENSP00000509604.1:p.Leu345=
ENST00000685763.1:c.932T>C (MAP2K1)	ENSP00000509016.1:p.Phe311Ser
ENST00000686347.1:c.752T>C (MAP2K1)	ENSP00000509027.1:p.Phe251Ser
ENST00000687191.1:n.3359T>C (MAP2K1)
ENST00000687481.1:n.494T>C (MAP2K1)
ENST00000688689.1:n.834T>C (MAP2K1)
ENST00000689951.1:c.1130T>C (MAP2K1)	ENSP00000509308.1:p.Phe377Ser
ENST00000691077.1:c.*2238T>C (MAP2K1)	ENSP00000509843.1:n.*2238T>C
ENST00000691576.1:c.950T>C (MAP2K1)	ENSP00000510066.1:p.Phe317Ser
ENST00000691937.1:c.*60T>C (MAP2K1)	ENSP00000508768.1:n.*60T>C
ENST00000692487.1:c.*2679T>C (MAP2K1)	ENSP00000509534.1:n.*2679T>C
ENST00000692683.1:c.1013T>C (MAP2K1)	ENSP00000508437.1:p.Phe338Ser
ENST00000693150.1:c.935T>C (MAP2K1)	ENSP00000510309.1:p.Phe312Ser
ENST00000307102.10:c.1079T>C (MAP2K1) MANE Select	ENSP00000302486.5:p.Phe360Ser
ENST00000307102.9:c.1079T>C (MAP2K1)	ENSP00000302486.4:p.Phe360Ser
ENST00000395589.6:c.*227A>G (SNAPC5)	ENSP00000378954.2:n.*227A>G
ENST00000563480.6:c.*227A>G (SNAPC5)	ENSP00000457892.1:n.*227A>G
ENST00000566326.1:c.551T>C (MAP2K1)	ENSP00000456438.1:p.Phe184Ser
NM_002755.3:c.1079T>C , LRG_725t1:c.1079T>C (MAP2K1)	NP_002746.1:p.Phe360Ser
NM_006049.2:c.*227A>G (SNAPC5)	NP_006040.1:n.*227A>G
XM_011521783.1:c.1013T>C (MAP2K1)	XP_011520085.1:p.Phe338Ser
NM_006049.3:c.*227A>G (SNAPC5)	NP_006040.1:n.*227A>G
NR_138061.1:n.746A>G (SNAPC5)
XM_011521783.3:c.1013T>C (MAP2K1)	XP_011520085.1:p.Phe338Ser
XM_017022411.2:c.1001T>C (MAP2K1)	XP_016877900.1:p.Phe334Ser
XM_017022412.1:c.935T>C (MAP2K1)	XP_016877901.1:p.Phe312Ser
XM_017022413.1:c.551T>C (MAP2K1)	XP_016877902.1:p.Phe184Ser
NM_002755.4:c.1079T>C (MAP2K1) MANE Select	NP_002746.1:p.Phe360Ser
NM_006049.4:c.*227A>G (SNAPC5)	NP_006040.1:n.*227A>G
NR_138061.2:n.693A>G (SNAPC5)