Canonical Allele Identifier: CA1057151107

Gene: MCCC1

Linked Data

• dbSNP Id: rs1714158342
• gnomAD v3: 3-183042336-T-A
• gnomAD v4: 3-183042336-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183042336T>A , CM000665.2:g.183042336T>A	GRCh38
NC_000003.11:g.182760124T>A , CM000665.1:g.182760124T>A	GRCh37
NC_000003.10:g.184242818T>A	NCBI36
NG_008100.1:g.62242A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1084-586A>T MANE Select	ENSP00000265594.4:n.1084-586A>T
ENST00000265594.8:c.1084-586A>T	ENSP00000265594.4:n.1084-586A>T
ENST00000476176.5:c.943-586A>T	ENSP00000420433.1:n.943-586A>T
ENST00000492597.5:c.757-586A>T	ENSP00000419898.1:n.757-586A>T
ENST00000495767.5:c.*665-586A>T	ENSP00000419658.1:n.*665-586A>T
ENST00000497830.5:c.*681-586A>T	ENSP00000420088.1:n.*681-586A>T
ENST00000497959.5:c.970-586A>T	ENSP00000420648.1:n.970-586A>T
ENST00000539926.5:c.634-586A>T	ENSP00000441253.2:n.634-586A>T
ENST00000610757.4:c.634-586A>T	ENSP00000480435.1:n.634-586A>T
ENST00000629669.2:c.970-586A>T	ENSP00000486824.1:n.970-586A>T
NM_001293273.1:c.733-586A>T	NP_001280202.1:n.733-586A>T
NM_020166.4:c.1084-586A>T	NP_064551.3:n.1084-586A>T
NR_120639.1:n.998-586A>T
NR_120640.1:n.1751-586A>T
XM_006713702.1:c.757-586A>T	XP_006713765.1:n.757-586A>T
XM_011512992.1:c.970-586A>T	XP_011511294.1:n.970-586A>T
XM_011512993.1:c.1084-586A>T	XP_011511295.1:n.1084-586A>T
XR_241502.2:n.1231-586A>T
XR_924159.1:n.1231-586A>T
NM_001363880.1:c.757-586A>T	NP_001350809.1:n.757-586A>T
XM_011512992.2:c.970-586A>T	XP_011511294.1:n.970-586A>T
XR_001740207.2:n.1207-586A>T
XR_001740208.2:n.1207-586A>T
XR_001740209.2:n.1177-586A>T
XR_001740210.1:n.1037-586A>T
XR_002959553.1:n.1207-586A>T
XR_002959554.1:n.1207-586A>T
XR_241502.3:n.1177-586A>T
NM_020166.5:c.1084-586A>T MANE Select	NP_064551.3:n.1084-586A>T
NM_001293273.2:c.733-586A>T	NP_001280202.1:n.733-586A>T
NR_120639.2:n.907-586A>T
NR_120640.2:n.1751-586A>T