Canonical Allele Identifier: CA2719250

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183099439A>G , CM000665.2:g.183099439A>G	GRCh38
NC_000003.11:g.182817227A>G , CM000665.1:g.182817227A>G	GRCh37
NC_000003.10:g.184299921A>G	NCBI36
NG_008100.1:g.5139T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.2T>C MANE Select	NP_064551.3:p.Met1Thr
ENST00000265594.9:c.2T>C MANE Select	ENSP00000265594.4:p.Met1Thr
NM_001293273.1:c.-91T>C	NP_001280202.1:n.-91T>C
NM_001293273.2:c.-91T>C	NP_001280202.1:n.-91T>C
NM_001363880.1:c.-189T>C	NP_001350809.1:n.-189T>C
NM_020166.4:c.2T>C	NP_064551.3:p.Met1Thr
NR_120639.1:n.149T>C
NR_120639.2:n.58T>C
ENST00000265594.8:c.2T>C	ENSP00000265594.4:p.Met1Thr
ENST00000466650.5:c.2T>C	ENSP00000418979.1:p.Met1Thr
ENST00000476176.5:c.2T>C	ENSP00000420433.1:p.Met1Thr
ENST00000486226.1:c.2T>C	ENSP00000420223.1:p.Met1Thr
ENST00000487634.5:c.2T>C	ENSP00000420591.1:p.Met1Thr
ENST00000490284.5:c.2T>C	ENSP00000419328.1:p.Met1Thr
ENST00000492597.5:c.-101-4834T>C	ENSP00000419898.1:n.-101-4834T>C
ENST00000495767.5:c.2T>C	ENSP00000419658.1:p.Met1Thr
ENST00000497830.5:c.2T>C	ENSP00000420088.1:p.Met1Thr
ENST00000539926.5:c.-189T>C	ENSP00000441253.2:n.-189T>C
ENST00000610757.4:c.-326T>C	ENSP00000480435.1:n.-326T>C
ENST00000629669.2:c.-113T>C	ENSP00000486824.1:n.-113T>C
XM_006713702.1:c.-189T>C	XP_006713765.1:n.-189T>C
XM_011512993.1:c.2T>C	XP_011511295.1:p.Met1Thr
XR_001740207.2:n.125T>C
XR_001740208.2:n.125T>C
XR_001740209.2:n.95T>C
XR_001740210.1:n.92T>C
XR_002959553.1:n.125T>C
XR_002959554.1:n.125T>C
XR_241502.2:n.149T>C
XR_241502.3:n.95T>C
XR_924159.1:n.149T>C