Canonical Allele Identifier: CA355320207

Gene: MCCC1

Linked Data

• MyVariant Identifiers: chr3:g.182755070C>A (hg19) ; chr3:g.183037282C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037282C>A , CM000665.2:g.183037282C>A	GRCh38
NC_000003.11:g.182755070C>A , CM000665.1:g.182755070C>A	GRCh37
NC_000003.10:g.184237764C>A	NCBI36
NG_008100.1:g.67296G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1530G>T MANE Select	ENSP00000265594.4:p.Gln510His
ENST00000265594.8:c.1530G>T	ENSP00000265594.4:p.Gln510His
ENST00000476176.5:c.1389G>T	ENSP00000420433.1:p.Gln463His
ENST00000489909.1:n.74G>T
ENST00000492597.5:c.1203G>T	ENSP00000419898.1:p.Gln401His
ENST00000495767.5:c.*1111G>T	ENSP00000419658.1:n.*1111G>T
ENST00000497830.5:c.*1127G>T	ENSP00000420088.1:n.*1127G>T
ENST00000497959.5:c.1263+1744G>T	ENSP00000420648.1:n.1263+1744G>T
ENST00000539926.5:c.1080G>T	ENSP00000441253.2:p.Gln360His
ENST00000610757.4:c.1080G>T	ENSP00000480435.1:p.Gln360His
ENST00000629669.2:c.1263+1744G>T	ENSP00000486824.1:n.1263+1744G>T
NM_001293273.1:c.1179G>T	NP_001280202.1:p.Gln393His
NM_020166.4:c.1530G>T	NP_064551.3:p.Gln510His
NR_120639.1:n.1444G>T
NR_120640.1:n.2044+1744G>T
XM_006713702.1:c.1203G>T	XP_006713765.1:p.Gln401His
XM_011512992.1:c.1416G>T	XP_011511294.1:p.Gln472His
XM_011512993.1:c.1377+1744G>T	XP_011511295.1:n.1377+1744G>T
XR_241502.2:n.1524+1744G>T
XR_924159.1:n.1677G>T
NM_001363880.1:c.1203G>T	NP_001350809.1:p.Gln401His
XM_011512992.2:c.1416G>T	XP_011511294.1:p.Gln472His
XR_001740207.2:n.1653G>T
XR_001740208.2:n.1653G>T
XR_001740209.2:n.1470+1744G>T
XR_001740210.1:n.1483G>T
XR_002959553.1:n.1653G>T
XR_002959554.1:n.1500+1744G>T
XR_241502.3:n.1470+1744G>T
NM_020166.5:c.1530G>T MANE Select	NP_064551.3:p.Gln510His
NM_001293273.2:c.1179G>T	NP_001280202.1:p.Gln393His
NR_120639.2:n.1353G>T
NR_120640.2:n.2044+1744G>T