Canonical Allele Identifier: CA490862031

Gene: MAP2K1 SNAPC5

Linked Data

• gnomAD v4: 15-66490540-G-C
• COSMIC: COSM1608611
• MyVariant Identifiers: chr15:g.66782878G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490540G>C , CM000677.2:g.66490540G>C	GRCh38
NC_000015.9:g.66782878G>C , CM000677.1:g.66782878G>C	GRCh37
NC_000015.8:g.64569932G>C	NCBI36
NG_008305.1:g.108668G>C , LRG_725:g.108668G>C
NG_051234.1:g.12276C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*155G>C (MAP2K1)	ENSP00000508681.1:n.*155G>C
ENST00000685172.1:c.1061G>C (MAP2K1)	ENSP00000509604.1:p.Trp354Ser
ENST00000685763.1:c.960G>C (MAP2K1)	ENSP00000509016.1:p.Val320=
ENST00000686347.1:c.780G>C (MAP2K1)	ENSP00000509027.1:p.Val260=
ENST00000687191.1:n.3387G>C (MAP2K1)
ENST00000687481.1:n.522G>C (MAP2K1)
ENST00000688689.1:n.862G>C (MAP2K1)
ENST00000689951.1:c.1158G>C (MAP2K1)	ENSP00000509308.1:p.Val386=
ENST00000691077.1:c.*2266G>C (MAP2K1)	ENSP00000509843.1:n.*2266G>C
ENST00000691576.1:c.978G>C (MAP2K1)	ENSP00000510066.1:p.Val326=
ENST00000691937.1:c.*88G>C (MAP2K1)	ENSP00000508768.1:n.*88G>C
ENST00000692487.1:c.*2707G>C (MAP2K1)	ENSP00000509534.1:n.*2707G>C
ENST00000692683.1:c.1041G>C (MAP2K1)	ENSP00000508437.1:p.Val347=
ENST00000693150.1:c.963G>C (MAP2K1)	ENSP00000510309.1:p.Val321=
ENST00000307102.10:c.1107G>C (MAP2K1) MANE Select	ENSP00000302486.5:p.Val369=
ENST00000307102.9:c.1107G>C (MAP2K1)	ENSP00000302486.4:p.Val369=
ENST00000395589.6:c.*199C>G (SNAPC5)	ENSP00000378954.2:n.*199C>G
ENST00000563480.6:c.*199C>G (SNAPC5)	ENSP00000457892.1:n.*199C>G
ENST00000566326.1:c.579G>C (MAP2K1)	ENSP00000456438.1:p.Val193=
NM_002755.3:c.1107G>C , LRG_725t1:c.1107G>C (MAP2K1)	NP_002746.1:p.Val369=
NM_006049.2:c.*199C>G (SNAPC5)	NP_006040.1:n.*199C>G
XM_011521783.1:c.1041G>C (MAP2K1)	XP_011520085.1:p.Val347=
NM_006049.3:c.*199C>G (SNAPC5)	NP_006040.1:n.*199C>G
NR_138061.1:n.718C>G (SNAPC5)
XM_011521783.3:c.1041G>C (MAP2K1)	XP_011520085.1:p.Val347=
XM_017022411.2:c.1029G>C (MAP2K1)	XP_016877900.1:p.Val343=
XM_017022412.1:c.963G>C (MAP2K1)	XP_016877901.1:p.Val321=
XM_017022413.1:c.579G>C (MAP2K1)	XP_016877902.1:p.Val193=
NM_002755.4:c.1107G>C (MAP2K1) MANE Select	NP_002746.1:p.Val369=
NM_006049.4:c.*199C>G (SNAPC5)	NP_006040.1:n.*199C>G
NR_138061.2:n.665C>G (SNAPC5)