Canonical Allele Identifier: CA355321983

Gene: MCCC1

Linked Data

• gnomAD v4: 3-183039090-A-G
• MyVariant Identifiers: chr3:g.182756878A>G (hg19) ; chr3:g.183039090A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039090A>G , CM000665.2:g.183039090A>G	GRCh38
NC_000003.11:g.182756878A>G , CM000665.1:g.182756878A>G	GRCh37
NC_000003.10:g.184239572A>G	NCBI36
NG_008100.1:g.65488T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1313T>C MANE Select	ENSP00000265594.4:p.Val438Ala
ENST00000265594.8:c.1313T>C	ENSP00000265594.4:p.Val438Ala
ENST00000476176.5:c.1172T>C	ENSP00000420433.1:p.Val391Ala
ENST00000492597.5:c.986T>C	ENSP00000419898.1:p.Val329Ala
ENST00000495767.5:c.*894T>C	ENSP00000419658.1:n.*894T>C
ENST00000497830.5:c.*910T>C	ENSP00000420088.1:n.*910T>C
ENST00000497959.5:c.1199T>C	ENSP00000420648.1:p.Val400Ala
ENST00000539926.5:c.863T>C	ENSP00000441253.2:p.Val288Ala
ENST00000610757.4:c.863T>C	ENSP00000480435.1:p.Val288Ala
ENST00000629669.2:c.1199T>C	ENSP00000486824.1:p.Val400Ala
NM_001293273.1:c.962T>C	NP_001280202.1:p.Val321Ala
NM_020166.4:c.1313T>C	NP_064551.3:p.Val438Ala
NR_120639.1:n.1227T>C
NR_120640.1:n.1980T>C
XM_006713702.1:c.986T>C	XP_006713765.1:p.Val329Ala
XM_011512992.1:c.1199T>C	XP_011511294.1:p.Val400Ala
XM_011512993.1:c.1313T>C	XP_011511295.1:p.Val438Ala
XR_241502.2:n.1460T>C
XR_924159.1:n.1460T>C
NM_001363880.1:c.986T>C	NP_001350809.1:p.Val329Ala
XM_011512992.2:c.1199T>C	XP_011511294.1:p.Val400Ala
XR_001740207.2:n.1436T>C
XR_001740208.2:n.1436T>C
XR_001740209.2:n.1406T>C
XR_001740210.1:n.1266T>C
XR_002959553.1:n.1436T>C
XR_002959554.1:n.1436T>C
XR_241502.3:n.1406T>C
NM_020166.5:c.1313T>C MANE Select	NP_064551.3:p.Val438Ala
NM_001293273.2:c.962T>C	NP_001280202.1:p.Val321Ala
NR_120639.2:n.1136T>C
NR_120640.2:n.1980T>C