Canonical Allele Identifier: CA009546
Gene: MEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16677
dbSNP Id: rs104894256
COSMIC: COSM85829

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64810045A>C , CM000673.2:g.64810045A>C GRCh38
NC_000011.9:g.64577517A>C , CM000673.1:g.64577517A>C GRCh37
NC_000011.8:g.64334093A>C NCBI36
NG_008929.1:g.6250T>G , LRG_509:g.6250T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000478548.3:n.97T>G
ENST00000312049.11:c.65T>G ENSP00000308975.6:p.Leu22Arg
ENST00000315422.9:c.65T>G ENSP00000323747.4:p.Leu22Arg
ENST00000377313.6:c.65T>G ENSP00000366530.1:p.Leu22Arg
ENST00000440873.6:c.65T>G ENSP00000413944.2:p.Leu22Arg
ENST00000450708.7:c.65T>G MANE Select ENSP00000394933.3:p.Leu22Arg
ENST00000478548.2:n.105T>G
ENST00000671939.1:n.132T>G
ENST00000672304.1:c.65T>G ENSP00000500585.1:p.Leu22Arg
ENST00000312049.10:c.65T>G ENSP00000308975.6:p.Leu22Arg
ENST00000315422.8:c.65T>G ENSP00000323747.4:p.Leu22Arg
ENST00000337652.5:c.65T>G ENSP00000337088.1:p.Leu22Arg
ENST00000377313.5:c.65T>G ENSP00000366530.1:p.Leu22Arg
ENST00000377316.6:c.65T>G ENSP00000366533.1:p.Leu22Arg
ENST00000377321.5:c.65T>G ENSP00000366538.1:p.Leu22Arg
ENST00000377326.7:c.65T>G ENSP00000366543.3:p.Leu22Arg
ENST00000394374.6:c.65T>G ENSP00000377899.2:p.Leu22Arg
ENST00000394376.5:c.65T>G ENSP00000377901.1:p.Leu22Arg
ENST00000413626.1:c.65T>G ENSP00000411218.1:p.Leu22Arg
ENST00000424912.1:c.65T>G ENSP00000388016.1:p.Leu22Arg
ENST00000429702.5:c.65T>G ENSP00000402752.1:p.Leu22Arg
ENST00000440873.5:c.65T>G ENSP00000413944.1:p.Leu22Arg
ENST00000450708.5:c.65T>G ENSP00000394933.1:p.Leu22Arg
NM_000244.3:c.65T>G , LRG_509t1:c.65T>G NP_000235.2:p.Leu22Arg
NM_130799.2:c.65T>G , LRG_509t2:c.65T>G NP_570711.1:p.Leu22Arg
NM_130800.2:c.65T>G NP_570712.1:p.Leu22Arg
NM_130801.2:c.65T>G NP_570713.1:p.Leu22Arg
NM_130802.2:c.65T>G NP_570714.1:p.Leu22Arg
NM_130803.2:c.65T>G NP_570715.1:p.Leu22Arg
NM_130804.2:c.65T>G NP_570716.1:p.Leu22Arg
XM_005274001.3:c.65T>G XP_005274058.1:p.Leu22Arg
XM_011545040.1:c.65T>G XP_011543342.1:p.Leu22Arg
XM_011545041.1:c.65T>G XP_011543343.1:p.Leu22Arg
XM_011545042.1:c.65T>G XP_011543344.1:p.Leu22Arg
XM_005274001.4:c.65T>G XP_005274058.1:p.Leu22Arg
XM_011545041.2:c.65T>G XP_011543343.1:p.Leu22Arg
XM_011545042.3:c.65T>G XP_011543344.1:p.Leu22Arg
XM_017017765.1:c.65T>G XP_016873254.1:p.Leu22Arg
XM_017017766.1:c.65T>G XP_016873255.1:p.Leu22Arg
XM_017017767.2:c.65T>G XP_016873256.1:p.Leu22Arg
XM_017017768.1:c.65T>G XP_016873257.1:p.Leu22Arg
XM_017017769.1:c.65T>G XP_016873258.1:p.Leu22Arg
XM_017017770.2:c.65T>G XP_016873259.1:p.Leu22Arg
NM_001370251.1:c.65T>G NP_001357180.1:p.Leu22Arg
NM_001370259.2:c.65T>G MANE Select NP_001357188.2:p.Leu22Arg
NM_001370260.1:c.65T>G NP_001357189.1:p.Leu22Arg
NM_001370261.1:c.65T>G NP_001357190.1:p.Leu22Arg
NM_001370262.1:c.65T>G NP_001357191.1:p.Leu22Arg
NM_001370263.1:c.65T>G NP_001357192.1:p.Leu22Arg
NM_000244.4:c.65T>G NP_000235.3:p.Leu22Arg
NM_001370251.2:c.65T>G NP_001357180.2:p.Leu22Arg
NM_001370260.2:c.65T>G NP_001357189.2:p.Leu22Arg
NM_001370261.2:c.65T>G NP_001357190.2:p.Leu22Arg
NM_001370262.2:c.65T>G NP_001357191.2:p.Leu22Arg
NM_001370263.2:c.65T>G NP_001357192.2:p.Leu22Arg
NM_130799.3:c.65T>G NP_570711.2:p.Leu22Arg
NM_130800.3:c.65T>G NP_570712.2:p.Leu22Arg
NM_130801.3:c.65T>G NP_570713.2:p.Leu22Arg
NM_130802.3:c.65T>G NP_570714.2:p.Leu22Arg
NM_130803.3:c.65T>G NP_570715.2:p.Leu22Arg
NM_130804.3:c.65T>G NP_570716.2:p.Leu22Arg