Canonical Allele Identifier: CA437092559

Gene: MCCC1

Linked Data

• ClinVar Variation Id: 2840466
• ClinVar RCV Id: RCV003602251
• gnomAD v4: 3-183037405-G-A
• MyVariant Identifiers: chr3:g.182755193G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037405G>A , CM000665.2:g.183037405G>A	GRCh38
NC_000003.11:g.182755193G>A , CM000665.1:g.182755193G>A	GRCh37
NC_000003.10:g.184237887G>A	NCBI36
NG_008100.1:g.67173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1407C>T MANE Select	ENSP00000265594.4:p.Phe469=
ENST00000265594.8:c.1407C>T	ENSP00000265594.4:p.Phe469=
ENST00000476176.5:c.1266C>T	ENSP00000420433.1:p.Phe422=
ENST00000492597.5:c.1080C>T	ENSP00000419898.1:p.Phe360=
ENST00000495767.5:c.*988C>T	ENSP00000419658.1:n.*988C>T
ENST00000497830.5:c.*1004C>T	ENSP00000420088.1:n.*1004C>T
ENST00000497959.5:c.1263+1621C>T	ENSP00000420648.1:n.1263+1621C>T
ENST00000539926.5:c.957C>T	ENSP00000441253.2:p.Phe319=
ENST00000610757.4:c.957C>T	ENSP00000480435.1:p.Phe319=
ENST00000629669.2:c.1263+1621C>T	ENSP00000486824.1:n.1263+1621C>T
NM_001293273.1:c.1056C>T	NP_001280202.1:p.Phe352=
NM_020166.4:c.1407C>T	NP_064551.3:p.Phe469=
NR_120639.1:n.1321C>T
NR_120640.1:n.2044+1621C>T
XM_006713702.1:c.1080C>T	XP_006713765.1:p.Phe360=
XM_011512992.1:c.1293C>T	XP_011511294.1:p.Phe431=
XM_011512993.1:c.1377+1621C>T	XP_011511295.1:n.1377+1621C>T
XR_241502.2:n.1524+1621C>T
XR_924159.1:n.1554C>T
NM_001363880.1:c.1080C>T	NP_001350809.1:p.Phe360=
XM_011512992.2:c.1293C>T	XP_011511294.1:p.Phe431=
XR_001740207.2:n.1530C>T
XR_001740208.2:n.1530C>T
XR_001740209.2:n.1470+1621C>T
XR_001740210.1:n.1360C>T
XR_002959553.1:n.1530C>T
XR_002959554.1:n.1500+1621C>T
XR_241502.3:n.1470+1621C>T
NM_020166.5:c.1407C>T MANE Select	NP_064551.3:p.Phe469=
NM_001293273.2:c.1056C>T	NP_001280202.1:p.Phe352=
NR_120639.2:n.1230C>T
NR_120640.2:n.2044+1621C>T