Canonical Allele Identifier: CA392938787

Gene: MAP2K1 SNAPC5

Linked Data

• gnomAD v4: 15-66490506-A-T
• MyVariant Identifiers: chr15:g.66782844A>T (hg19) ; chr15:g.66490506A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.66490506A>T , CM000677.2:g.66490506A>T	GRCh38
NC_000015.9:g.66782844A>T , CM000677.1:g.66782844A>T	GRCh37
NC_000015.8:g.64569898A>T	NCBI36
NG_008305.1:g.108634A>T , LRG_725:g.108634A>T
NG_051234.1:g.12310T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684779.1:c.*121A>T (MAP2K1)	ENSP00000508681.1:n.*121A>T
ENST00000685172.1:c.1027A>T (MAP2K1)	ENSP00000509604.1:p.Met343Leu
ENST00000685763.1:c.926A>T (MAP2K1)	ENSP00000509016.1:p.His309Leu
ENST00000686347.1:c.746A>T (MAP2K1)	ENSP00000509027.1:p.His249Leu
ENST00000687191.1:n.3353A>T (MAP2K1)
ENST00000687481.1:n.488A>T (MAP2K1)
ENST00000688689.1:n.828A>T (MAP2K1)
ENST00000689951.1:c.1124A>T (MAP2K1)	ENSP00000509308.1:p.His375Leu
ENST00000691077.1:c.*2232A>T (MAP2K1)	ENSP00000509843.1:n.*2232A>T
ENST00000691576.1:c.944A>T (MAP2K1)	ENSP00000510066.1:p.His315Leu
ENST00000691937.1:c.*54A>T (MAP2K1)	ENSP00000508768.1:n.*54A>T
ENST00000692487.1:c.*2673A>T (MAP2K1)	ENSP00000509534.1:n.*2673A>T
ENST00000692683.1:c.1007A>T (MAP2K1)	ENSP00000508437.1:p.His336Leu
ENST00000693150.1:c.929A>T (MAP2K1)	ENSP00000510309.1:p.His310Leu
ENST00000307102.10:c.1073A>T (MAP2K1) MANE Select	ENSP00000302486.5:p.His358Leu
ENST00000307102.9:c.1073A>T (MAP2K1)	ENSP00000302486.4:p.His358Leu
ENST00000395589.6:c.*233T>A (SNAPC5)	ENSP00000378954.2:n.*233T>A
ENST00000563480.6:c.*233T>A (SNAPC5)	ENSP00000457892.1:n.*233T>A
ENST00000566326.1:c.545A>T (MAP2K1)	ENSP00000456438.1:p.His182Leu
NM_002755.3:c.1073A>T , LRG_725t1:c.1073A>T (MAP2K1)	NP_002746.1:p.His358Leu
NM_006049.2:c.*233T>A (SNAPC5)	NP_006040.1:n.*233T>A
XM_011521783.1:c.1007A>T (MAP2K1)	XP_011520085.1:p.His336Leu
NM_006049.3:c.*233T>A (SNAPC5)	NP_006040.1:n.*233T>A
NR_138061.1:n.752T>A (SNAPC5)
XM_011521783.3:c.1007A>T (MAP2K1)	XP_011520085.1:p.His336Leu
XM_017022411.2:c.995A>T (MAP2K1)	XP_016877900.1:p.His332Leu
XM_017022412.1:c.929A>T (MAP2K1)	XP_016877901.1:p.His310Leu
XM_017022413.1:c.545A>T (MAP2K1)	XP_016877902.1:p.His182Leu
NM_002755.4:c.1073A>T (MAP2K1) MANE Select	NP_002746.1:p.His358Leu
NM_006049.4:c.*233T>A (SNAPC5)	NP_006040.1:n.*233T>A
NR_138061.2:n.699T>A (SNAPC5)