Canonical Allele Identifier: CA060648

Gene: MEN1

Linked Data

• dbSNP Id: rs758707117
• ExAC: 11:64572219 C / T
• gnomAD v2: 11-64572219-C-T
• MyVariant Identifiers: chr11:g.64572219C>T (hg19) ; chr11:g.64804747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64804747C>T , CM000673.2:g.64804747C>T	GRCh38
NC_000011.9:g.64572219C>T , CM000673.1:g.64572219C>T	GRCh37
NC_000011.8:g.64328795C>T	NCBI36
NG_008929.1:g.11548G>A , LRG_509:g.11548G>A
NG_033040.1:g.3495G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377313.7:c.1435G>A	ENSP00000366530.1:p.Glu479Lys
ENST00000394374.8:c.*728G>A	ENSP00000377899.4:n.*728G>A
ENST00000394376.7:c.1411G>A	ENSP00000377901.3:p.Glu471Lys
ENST00000413626.2:c.1420G>A	ENSP00000411218.2:p.Glu474Lys
ENST00000424912.2:c.1420G>A	ENSP00000388016.2:p.Glu474Lys
ENST00000429702.6:c.1420G>A	ENSP00000402752.2:p.Glu474Lys
ENST00000672079.2:c.*516G>A	ENSP00000500905.2:n.*516G>A
ENST00000710881.1:c.1435G>A	ENSP00000518530.1:p.Glu479Lys
ENST00000394374.7:c.1167G>A
ENST00000394376.6:c.762G>A
ENST00000478548.3:n.1913G>A
ENST00000671939.2:n.1382G>A
ENST00000671965.2:n.1802G>A
ENST00000312049.11:c.1420G>A	ENSP00000308975.6:p.Glu474Lys
ENST00000315422.9:c.1420G>A	ENSP00000323747.4:p.Glu474Lys
ENST00000377313.6:c.1435G>A	ENSP00000366530.1:p.Glu479Lys
ENST00000440873.6:c.1420G>A	ENSP00000413944.2:p.Glu474Lys
ENST00000450708.7:c.1420G>A MANE Select	ENSP00000394933.3:p.Glu474Lys
ENST00000478548.2:n.1921G>A
ENST00000671939.1:n.1697G>A
ENST00000672304.1:c.1546G>A	ENSP00000500585.1:p.Glu516Lys
ENST00000312049.10:c.1420G>A	ENSP00000308975.6:p.Glu474Lys
ENST00000315422.8:c.1420G>A	ENSP00000323747.4:p.Glu474Lys
ENST00000337652.5:c.1435G>A	ENSP00000337088.1:p.Glu479Lys
ENST00000377313.5:c.1435G>A	ENSP00000366530.1:p.Glu479Lys
ENST00000377316.6:c.1255G>A	ENSP00000366533.1:p.Glu419Lys
ENST00000377321.5:c.1315G>A	ENSP00000366538.1:p.Glu439Lys
ENST00000377326.7:c.1420G>A	ENSP00000366543.3:p.Glu474Lys
ENST00000394374.6:c.1435G>A	ENSP00000377899.2:p.Glu479Lys
ENST00000394376.5:c.1435G>A	ENSP00000377901.1:p.Glu479Lys
ENST00000478548.1:n.969G>A
NM_000244.3:c.1435G>A , LRG_509t1:c.1435G>A	NP_000235.2:p.Glu479Lys
NM_130799.2:c.1420G>A , LRG_509t2:c.1420G>A	NP_570711.1:p.Glu474Lys
NM_130800.2:c.1435G>A	NP_570712.1:p.Glu479Lys
NM_130801.2:c.1435G>A	NP_570713.1:p.Glu479Lys
NM_130802.2:c.1435G>A	NP_570714.1:p.Glu479Lys
NM_130803.2:c.1435G>A	NP_570715.1:p.Glu479Lys
NM_130804.2:c.1435G>A	NP_570716.1:p.Glu479Lys
XM_005274001.3:c.1420G>A	XP_005274058.1:p.Glu474Lys
XM_011545040.1:c.1546G>A	XP_011543342.1:p.Glu516Lys
XM_011545041.1:c.1546G>A	XP_011543343.1:p.Glu516Lys
XM_011545042.1:c.1546G>A	XP_011543344.1:p.Glu516Lys
XM_005274001.4:c.1420G>A	XP_005274058.1:p.Glu474Lys
XM_011545041.2:c.1546G>A	XP_011543343.1:p.Glu516Lys
XM_011545042.3:c.1546G>A	XP_011543344.1:p.Glu516Lys
XM_017017765.1:c.1561G>A	XP_016873254.1:p.Glu521Lys
XM_017017766.1:c.1561G>A	XP_016873255.1:p.Glu521Lys
XM_017017767.2:c.1561G>A	XP_016873256.1:p.Glu521Lys
XM_017017768.1:c.1561G>A	XP_016873257.1:p.Glu521Lys
XM_017017769.1:c.1420G>A	XP_016873258.1:p.Glu474Lys
XM_017017770.2:c.1420G>A	XP_016873259.1:p.Glu474Lys
NM_001370251.1:c.1546G>A	NP_001357180.1:p.Glu516Lys
NM_001370259.2:c.1420G>A MANE Select	NP_001357188.2:p.Glu474Lys
NM_001370260.1:c.1420G>A	NP_001357189.1:p.Glu474Lys
NM_001370261.1:c.1420G>A	NP_001357190.1:p.Glu474Lys
NM_001370262.1:c.1315G>A	NP_001357191.1:p.Glu439Lys
NM_001370263.1:c.1315G>A	NP_001357192.1:p.Glu439Lys
NM_000244.4:c.1435G>A	NP_000235.3:p.Glu479Lys
NM_001370251.2:c.1546G>A	NP_001357180.2:p.Glu516Lys
NM_001370260.2:c.1420G>A	NP_001357189.2:p.Glu474Lys
NM_001370261.2:c.1420G>A	NP_001357190.2:p.Glu474Lys
NM_001370262.2:c.1315G>A	NP_001357191.2:p.Glu439Lys
NM_001370263.2:c.1315G>A	NP_001357192.2:p.Glu439Lys
NM_130799.3:c.1420G>A	NP_570711.2:p.Glu474Lys
NM_130800.3:c.1435G>A	NP_570712.2:p.Glu479Lys
NM_130801.3:c.1435G>A	NP_570713.2:p.Glu479Lys
NM_130802.3:c.1435G>A	NP_570714.2:p.Glu479Lys
NM_130803.3:c.1435G>A	NP_570715.2:p.Glu479Lys
NM_130804.3:c.1435G>A	NP_570716.2:p.Glu479Lys