Canonical Allele Identifier: CA2719160

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183092428T>G , CM000665.2:g.183092428T>G	GRCh38
NC_000003.11:g.182810216T>G , CM000665.1:g.182810216T>G	GRCh37
NC_000003.10:g.184292910T>G	NCBI36
NG_008100.1:g.12150A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.254A>C MANE Select	NP_064551.3:p.Asn85Thr
ENST00000265594.9:c.254A>C MANE Select	ENSP00000265594.4:p.Asn85Thr
NM_001293273.1:c.44+2131A>C	NP_001280202.1:n.44+2131A>C
NM_001293273.2:c.44+2131A>C	NP_001280202.1:n.44+2131A>C
NM_001363880.1:c.-55+2131A>C	NP_001350809.1:n.-55+2131A>C
NM_020166.4:c.254A>C	NP_064551.3:p.Asn85Thr
NR_120639.1:n.283+2131A>C
NR_120639.2:n.192+2131A>C
NR_120640.1:n.921A>C
NR_120640.2:n.921A>C
ENST00000265594.8:c.254A>C	ENSP00000265594.4:p.Asn85Thr
ENST00000466650.5:c.136+2131A>C	ENSP00000418979.1:n.136+2131A>C
ENST00000473955.1:n.167A>C
ENST00000476176.5:c.136+2131A>C	ENSP00000420433.1:n.136+2131A>C
ENST00000486226.1:c.254A>C	ENSP00000420223.1:p.Asn85Thr
ENST00000487634.5:c.136+2131A>C	ENSP00000420591.1:n.136+2131A>C
ENST00000490284.5:c.89+6924A>C	ENSP00000419328.1:n.89+6924A>C
ENST00000492597.5:c.-55+2131A>C	ENSP00000419898.1:n.-55+2131A>C
ENST00000495767.5:c.136+2131A>C	ENSP00000419658.1:n.136+2131A>C
ENST00000497830.5:c.136+2131A>C	ENSP00000420088.1:n.136+2131A>C
ENST00000497959.5:c.140A>C	ENSP00000420648.1:p.Asn47Thr
ENST00000539926.5:c.-55+2131A>C	ENSP00000441253.2:n.-55+2131A>C
ENST00000610757.4:c.-74A>C	ENSP00000480435.1:n.-74A>C
ENST00000629669.2:c.140A>C	ENSP00000486824.1:p.Asn47Thr
XM_006713702.1:c.-55+2131A>C	XP_006713765.1:n.-55+2131A>C
XM_011512992.1:c.140A>C	XP_011511294.1:p.Asn47Thr
XM_011512992.2:c.140A>C	XP_011511294.1:p.Asn47Thr
XM_011512993.1:c.254A>C	XP_011511295.1:p.Asn85Thr
XR_001740207.2:n.377A>C
XR_001740208.2:n.377A>C
XR_001740209.2:n.347A>C
XR_001740210.1:n.226+2131A>C
XR_002959553.1:n.377A>C
XR_002959554.1:n.377A>C
XR_241502.2:n.401A>C
XR_241502.3:n.347A>C
XR_924159.1:n.401A>C