Canonical Allele Identifier: CA392938871

Gene: MAP2K1 SNAPC5

Linked Data

• ClinVar Variation Id: 2413054
• ClinVar RCV Id: RCV003110069
• MyVariant Identifiers: chr15:g.66782862C>T (hg19) ; chr15:g.66490524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490524C>T , CM000677.2:g.66490524C>T	GRCh38
NC_000015.9:g.66782862C>T , CM000677.1:g.66782862C>T	GRCh37
NC_000015.8:g.64569916C>T	NCBI36
NG_008305.1:g.108652C>T , LRG_725:g.108652C>T
NG_051234.1:g.12292G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*139C>T (MAP2K1)	ENSP00000508681.1:n.*139C>T
ENST00000685172.1:c.1045C>T (MAP2K1)	ENSP00000509604.1:p.Leu349=
ENST00000685763.1:c.944C>T (MAP2K1)	ENSP00000509016.1:p.Ser315Phe
ENST00000686347.1:c.764C>T (MAP2K1)	ENSP00000509027.1:p.Ser255Phe
ENST00000687191.1:n.3371C>T (MAP2K1)
ENST00000687481.1:n.506C>T (MAP2K1)
ENST00000688689.1:n.846C>T (MAP2K1)
ENST00000689951.1:c.1142C>T (MAP2K1)	ENSP00000509308.1:p.Ser381Phe
ENST00000691077.1:c.*2250C>T (MAP2K1)	ENSP00000509843.1:n.*2250C>T
ENST00000691576.1:c.962C>T (MAP2K1)	ENSP00000510066.1:p.Ser321Phe
ENST00000691937.1:c.*72C>T (MAP2K1)	ENSP00000508768.1:n.*72C>T
ENST00000692487.1:c.*2691C>T (MAP2K1)	ENSP00000509534.1:n.*2691C>T
ENST00000692683.1:c.1025C>T (MAP2K1)	ENSP00000508437.1:p.Ser342Phe
ENST00000693150.1:c.947C>T (MAP2K1)	ENSP00000510309.1:p.Ser316Phe
ENST00000307102.10:c.1091C>T (MAP2K1) MANE Select	ENSP00000302486.5:p.Ser364Phe
ENST00000307102.9:c.1091C>T (MAP2K1)	ENSP00000302486.4:p.Ser364Phe
ENST00000395589.6:c.*215G>A (SNAPC5)	ENSP00000378954.2:n.*215G>A
ENST00000563480.6:c.*215G>A (SNAPC5)	ENSP00000457892.1:n.*215G>A
ENST00000566326.1:c.563C>T (MAP2K1)	ENSP00000456438.1:p.Ser188Phe
NM_002755.3:c.1091C>T , LRG_725t1:c.1091C>T (MAP2K1)	NP_002746.1:p.Ser364Phe
NM_006049.2:c.*215G>A (SNAPC5)	NP_006040.1:n.*215G>A
XM_011521783.1:c.1025C>T (MAP2K1)	XP_011520085.1:p.Ser342Phe
NM_006049.3:c.*215G>A (SNAPC5)	NP_006040.1:n.*215G>A
NR_138061.1:n.734G>A (SNAPC5)
XM_011521783.3:c.1025C>T (MAP2K1)	XP_011520085.1:p.Ser342Phe
XM_017022411.2:c.1013C>T (MAP2K1)	XP_016877900.1:p.Ser338Phe
XM_017022412.1:c.947C>T (MAP2K1)	XP_016877901.1:p.Ser316Phe
XM_017022413.1:c.563C>T (MAP2K1)	XP_016877902.1:p.Ser188Phe
NM_002755.4:c.1091C>T (MAP2K1) MANE Select	NP_002746.1:p.Ser364Phe
NM_006049.4:c.*215G>A (SNAPC5)	NP_006040.1:n.*215G>A
NR_138061.2:n.681G>A (SNAPC5)