Canonical Allele Identifier: CA16619361
Gene: MEN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418734
ClinVar RCV Id: RCV000484677
dbSNP Id: rs1064793398
MyVariant Identifiers: chr11:g.64574646C>T (hg19) chr11:g.64807174C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64807174C>T , CM000673.2:g.64807174C>T GRCh38
NC_000011.9:g.64574646C>T , CM000673.1:g.64574646C>T GRCh37
NC_000011.8:g.64331222C>T NCBI36
NG_008929.1:g.9121G>A , LRG_509:g.9121G>A
NG_033040.1:g.1068G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377313.7:c.839+5G>A ENSP00000366530.1:n.839+5G>A
ENST00000394374.8:c.*132+5G>A ENSP00000377899.4:n.*132+5G>A
ENST00000394376.7:c.824+5G>A ENSP00000377901.3:n.824+5G>A
ENST00000413626.2:c.824+5G>A ENSP00000411218.2:n.824+5G>A
ENST00000424912.2:c.824+5G>A ENSP00000388016.2:n.824+5G>A
ENST00000429702.6:c.824+5G>A ENSP00000402752.2:n.824+5G>A
ENST00000672079.2:c.824+5G>A ENSP00000500905.2:n.824+5G>A
ENST00000710881.1:c.839+5G>A ENSP00000518530.1:n.839+5G>A
ENST00000394374.7:c.571+5G>A
ENST00000394376.6:c.175+5G>A
ENST00000478548.3:n.856+5G>A
ENST00000671939.2:n.786+5G>A
ENST00000671965.2:n.489G>A
ENST00000312049.11:c.824+5G>A ENSP00000308975.6:n.824+5G>A
ENST00000315422.9:c.824+5G>A ENSP00000323747.4:n.824+5G>A
ENST00000377313.6:c.839+5G>A ENSP00000366530.1:n.839+5G>A
ENST00000440873.6:c.824+5G>A ENSP00000413944.2:n.824+5G>A
ENST00000450708.7:c.824+5G>A MANE Select ENSP00000394933.3:n.824+5G>A
ENST00000478548.2:n.864+5G>A
ENST00000671939.1:n.1101+5G>A
ENST00000671965.1:n.489G>A
ENST00000672079.1:c.550+5G>A
ENST00000672304.1:c.824+5G>A ENSP00000500585.1:n.824+5G>A
ENST00000312049.10:c.824+5G>A ENSP00000308975.6:n.824+5G>A
ENST00000315422.8:c.824+5G>A ENSP00000323747.4:n.824+5G>A
ENST00000337652.5:c.839+5G>A ENSP00000337088.1:n.839+5G>A
ENST00000377313.5:c.839+5G>A ENSP00000366530.1:n.839+5G>A
ENST00000377316.6:c.824+5G>A ENSP00000366533.1:n.824+5G>A
ENST00000377321.5:c.719+5G>A ENSP00000366538.1:n.719+5G>A
ENST00000377326.7:c.824+5G>A ENSP00000366543.3:n.824+5G>A
ENST00000394374.6:c.839+5G>A ENSP00000377899.2:n.839+5G>A
ENST00000394376.5:c.839+5G>A ENSP00000377901.1:n.839+5G>A
ENST00000440873.5:c.824+5G>A ENSP00000413944.1:n.824+5G>A
ENST00000450708.5:c.824+5G>A ENSP00000394933.1:n.824+5G>A
NM_000244.3:c.839+5G>A , LRG_509t1:c.839+5G>A NP_000235.2:n.839+5G>A
NM_130799.2:c.824+5G>A , LRG_509t2:c.824+5G>A NP_570711.1:n.824+5G>A
NM_130800.2:c.839+5G>A NP_570712.1:n.839+5G>A
NM_130801.2:c.839+5G>A NP_570713.1:n.839+5G>A
NM_130802.2:c.839+5G>A NP_570714.1:n.839+5G>A
NM_130803.2:c.839+5G>A NP_570715.1:n.839+5G>A
NM_130804.2:c.839+5G>A NP_570716.1:n.839+5G>A
XM_005274001.3:c.824+5G>A XP_005274058.1:n.824+5G>A
XM_011545040.1:c.824+5G>A XP_011543342.1:n.824+5G>A
XM_011545041.1:c.824+5G>A XP_011543343.1:n.824+5G>A
XM_011545042.1:c.824+5G>A XP_011543344.1:n.824+5G>A
XM_005274001.4:c.824+5G>A XP_005274058.1:n.824+5G>A
XM_011545041.2:c.824+5G>A XP_011543343.1:n.824+5G>A
XM_011545042.3:c.824+5G>A XP_011543344.1:n.824+5G>A
XM_017017765.1:c.839+5G>A XP_016873254.1:n.839+5G>A
XM_017017766.1:c.839+5G>A XP_016873255.1:n.839+5G>A
XM_017017767.2:c.839+5G>A XP_016873256.1:n.839+5G>A
XM_017017768.1:c.839+5G>A XP_016873257.1:n.839+5G>A
XM_017017769.1:c.824+5G>A XP_016873258.1:n.824+5G>A
XM_017017770.2:c.824+5G>A XP_016873259.1:n.824+5G>A
NM_001370251.1:c.824+5G>A NP_001357180.1:n.824+5G>A
NM_001370259.2:c.824+5G>A MANE Select NP_001357188.2:n.824+5G>A
NM_001370260.1:c.824+5G>A NP_001357189.1:n.824+5G>A
NM_001370261.1:c.824+5G>A NP_001357190.1:n.824+5G>A
NM_001370262.1:c.719+5G>A NP_001357191.1:n.719+5G>A
NM_001370263.1:c.719+5G>A NP_001357192.1:n.719+5G>A
NM_000244.4:c.839+5G>A NP_000235.3:n.839+5G>A
NM_001370251.2:c.824+5G>A NP_001357180.2:n.824+5G>A
NM_001370260.2:c.824+5G>A NP_001357189.2:n.824+5G>A
NM_001370261.2:c.824+5G>A NP_001357190.2:n.824+5G>A
NM_001370262.2:c.719+5G>A NP_001357191.2:n.719+5G>A
NM_001370263.2:c.719+5G>A NP_001357192.2:n.719+5G>A
NM_130799.3:c.824+5G>A NP_570711.2:n.824+5G>A
NM_130800.3:c.839+5G>A NP_570712.2:n.839+5G>A
NM_130801.3:c.839+5G>A NP_570713.2:n.839+5G>A
NM_130802.3:c.839+5G>A NP_570714.2:n.839+5G>A
NM_130803.3:c.839+5G>A NP_570715.2:n.839+5G>A
NM_130804.3:c.839+5G>A NP_570716.2:n.839+5G>A
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