Canonical Allele Identifier: CA490861854

Gene: MAP2K1 SNAPC5

Linked Data

• gnomAD v4: 15-66490442-G-T
• MyVariant Identifiers: chr15:g.66782780G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490442G>T , CM000677.2:g.66490442G>T	GRCh38
NC_000015.9:g.66782780G>T , CM000677.1:g.66782780G>T	GRCh37
NC_000015.8:g.64569834G>T	NCBI36
NG_008305.1:g.108570G>T , LRG_725:g.108570G>T
NG_051234.1:g.12374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*117-60G>T (MAP2K1)	ENSP00000508681.1:n.*117-60G>T
ENST00000685172.1:c.1023-60G>T (MAP2K1)	ENSP00000509604.1:n.1023-60G>T
ENST00000685763.1:c.922-60G>T (MAP2K1)	ENSP00000509016.1:n.922-60G>T
ENST00000686347.1:c.742-60G>T (MAP2K1)	ENSP00000509027.1:n.742-60G>T
ENST00000687191.1:n.3349-60G>T (MAP2K1)
ENST00000687481.1:n.484-60G>T (MAP2K1)
ENST00000688689.1:n.824-60G>T (MAP2K1)
ENST00000689951.1:c.1120-60G>T (MAP2K1)	ENSP00000509308.1:n.1120-60G>T
ENST00000691077.1:c.*2228-60G>T (MAP2K1)	ENSP00000509843.1:n.*2228-60G>T
ENST00000691576.1:c.940-60G>T (MAP2K1)	ENSP00000510066.1:n.940-60G>T
ENST00000691937.1:c.*50-60G>T (MAP2K1)	ENSP00000508768.1:n.*50-60G>T
ENST00000692487.1:c.*2669-60G>T (MAP2K1)	ENSP00000509534.1:n.*2669-60G>T
ENST00000692683.1:c.1003-60G>T (MAP2K1)	ENSP00000508437.1:n.1003-60G>T
ENST00000693150.1:c.925-60G>T (MAP2K1)	ENSP00000510309.1:n.925-60G>T
ENST00000307102.10:c.1069-60G>T (MAP2K1) MANE Select	ENSP00000302486.5:n.1069-60G>T
ENST00000307102.9:c.1069-60G>T (MAP2K1)	ENSP00000302486.4:n.1069-60G>T
ENST00000395589.6:c.*297C>A (SNAPC5)	ENSP00000378954.2:n.*297C>A
ENST00000563480.6:c.*297C>A (SNAPC5)	ENSP00000457892.1:n.*297C>A
ENST00000566326.1:c.541-60G>T (MAP2K1)	ENSP00000456438.1:n.541-60G>T
NM_002755.3:c.1069-60G>T , LRG_725t1:c.1069-60G>T (MAP2K1)	NP_002746.1:n.1069-60G>T
NM_006049.2:c.*297C>A (SNAPC5)	NP_006040.1:n.*297C>A
XM_011521783.1:c.1003-60G>T (MAP2K1)	XP_011520085.1:n.1003-60G>T
NM_006049.3:c.*297C>A (SNAPC5)	NP_006040.1:n.*297C>A
NR_138061.1:n.816C>A (SNAPC5)
XM_011521783.3:c.1003-60G>T (MAP2K1)	XP_011520085.1:n.1003-60G>T
XM_017022411.2:c.991-60G>T (MAP2K1)	XP_016877900.1:n.991-60G>T
XM_017022412.1:c.925-60G>T (MAP2K1)	XP_016877901.1:n.925-60G>T
XM_017022413.1:c.541-60G>T (MAP2K1)	XP_016877902.1:n.541-60G>T
NM_002755.4:c.1069-60G>T (MAP2K1) MANE Select	NP_002746.1:n.1069-60G>T
NM_006049.4:c.*297C>A (SNAPC5)	NP_006040.1:n.*297C>A
NR_138061.2:n.763C>A (SNAPC5)