Canonical Allele Identifier: CA1057149307

Gene: MCCC1

Linked Data

• dbSNP Id: rs1713684579
• gnomAD v3: 3-183037213-C-T
• gnomAD v4: 3-183037213-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183037213C>T , CM000665.2:g.183037213C>T	GRCh38
NC_000003.11:g.182755001C>T , CM000665.1:g.182755001C>T	GRCh37
NC_000003.10:g.184237695C>T	NCBI36
NG_008100.1:g.67365G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1594+5G>A MANE Select	ENSP00000265594.4:n.1594+5G>A
ENST00000265594.8:c.1594+5G>A	ENSP00000265594.4:n.1594+5G>A
ENST00000476176.5:c.1453+5G>A	ENSP00000420433.1:n.1453+5G>A
ENST00000489909.1:n.138+5G>A
ENST00000492597.5:c.1267+5G>A	ENSP00000419898.1:n.1267+5G>A
ENST00000495767.5:c.*1175+5G>A	ENSP00000419658.1:n.*1175+5G>A
ENST00000497830.5:c.*1191+5G>A	ENSP00000420088.1:n.*1191+5G>A
ENST00000497959.5:c.1263+1813G>A	ENSP00000420648.1:n.1263+1813G>A
ENST00000539926.5:c.1144+5G>A	ENSP00000441253.2:n.1144+5G>A
ENST00000610757.4:c.1144+5G>A	ENSP00000480435.1:n.1144+5G>A
ENST00000629669.2:c.1263+1813G>A	ENSP00000486824.1:n.1263+1813G>A
NM_001293273.1:c.1243+5G>A	NP_001280202.1:n.1243+5G>A
NM_020166.4:c.1594+5G>A	NP_064551.3:n.1594+5G>A
NR_120639.1:n.1508+5G>A
NR_120640.1:n.2044+1813G>A
XM_006713702.1:c.1267+5G>A	XP_006713765.1:n.1267+5G>A
XM_011512992.1:c.1480+5G>A	XP_011511294.1:n.1480+5G>A
XM_011512993.1:c.1377+1813G>A	XP_011511295.1:n.1377+1813G>A
XR_241502.2:n.1524+1813G>A
XR_924159.1:n.1741+5G>A
NM_001363880.1:c.1267+5G>A	NP_001350809.1:n.1267+5G>A
XM_011512992.2:c.1480+5G>A	XP_011511294.1:n.1480+5G>A
XR_001740207.2:n.1717+5G>A
XR_001740208.2:n.1717+5G>A
XR_001740209.2:n.1470+1813G>A
XR_001740210.1:n.1547+5G>A
XR_002959553.1:n.1717+5G>A
XR_002959554.1:n.1500+1813G>A
XR_241502.3:n.1470+1813G>A
NM_020166.5:c.1594+5G>A MANE Select	NP_064551.3:n.1594+5G>A
NM_001293273.2:c.1243+5G>A	NP_001280202.1:n.1243+5G>A
NR_120639.2:n.1417+5G>A
NR_120640.2:n.2044+1813G>A