Canonical Allele Identifier: CA2606762062

Gene: MCCC1

Linked Data

• dbSNP Id: rs2108480450
• gnomAD v3: 3-183042148-G-A
• gnomAD v4: 3-183042148-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183042148G>A , CM000665.2:g.183042148G>A	GRCh38
NC_000003.11:g.182759936G>A , CM000665.1:g.182759936G>A	GRCh37
NC_000003.10:g.184242630G>A	NCBI36
NG_008100.1:g.62430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1084-398C>T MANE Select	ENSP00000265594.4:n.1084-398C>T
ENST00000265594.8:c.1084-398C>T	ENSP00000265594.4:n.1084-398C>T
ENST00000476176.5:c.943-398C>T	ENSP00000420433.1:n.943-398C>T
ENST00000492597.5:c.757-398C>T	ENSP00000419898.1:n.757-398C>T
ENST00000495767.5:c.*665-398C>T	ENSP00000419658.1:n.*665-398C>T
ENST00000497830.5:c.*681-398C>T	ENSP00000420088.1:n.*681-398C>T
ENST00000497959.5:c.970-398C>T	ENSP00000420648.1:n.970-398C>T
ENST00000539926.5:c.634-398C>T	ENSP00000441253.2:n.634-398C>T
ENST00000610757.4:c.634-398C>T	ENSP00000480435.1:n.634-398C>T
ENST00000629669.2:c.970-398C>T	ENSP00000486824.1:n.970-398C>T
NM_001293273.1:c.733-398C>T	NP_001280202.1:n.733-398C>T
NM_020166.4:c.1084-398C>T	NP_064551.3:n.1084-398C>T
NR_120639.1:n.998-398C>T
NR_120640.1:n.1751-398C>T
XM_006713702.1:c.757-398C>T	XP_006713765.1:n.757-398C>T
XM_011512992.1:c.970-398C>T	XP_011511294.1:n.970-398C>T
XM_011512993.1:c.1084-398C>T	XP_011511295.1:n.1084-398C>T
XR_241502.2:n.1231-398C>T
XR_924159.1:n.1231-398C>T
NM_001363880.1:c.757-398C>T	NP_001350809.1:n.757-398C>T
XM_011512992.2:c.970-398C>T	XP_011511294.1:n.970-398C>T
XR_001740207.2:n.1207-398C>T
XR_001740208.2:n.1207-398C>T
XR_001740209.2:n.1177-398C>T
XR_001740210.1:n.1037-398C>T
XR_002959553.1:n.1207-398C>T
XR_002959554.1:n.1207-398C>T
XR_241502.3:n.1177-398C>T
NM_020166.5:c.1084-398C>T MANE Select	NP_064551.3:n.1084-398C>T
NM_001293273.2:c.733-398C>T	NP_001280202.1:n.733-398C>T
NR_120639.2:n.907-398C>T
NR_120640.2:n.1751-398C>T