Canonical Allele Identifier: CA2668715656

Gene: MCCC1

Linked Data

• dbSNP Id: rs2108473534
• gnomAD v4: 3-183038890-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183038890G>A , CM000665.2:g.183038890G>A	GRCh38
NC_000003.11:g.182756678G>A , CM000665.1:g.182756678G>A	GRCh37
NC_000003.10:g.184239372G>A	NCBI36
NG_008100.1:g.65688C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000265594.9:c.1377+136C>T MANE Select	ENSP00000265594.4:n.1377+136C>T
ENST00000265594.8:c.1377+136C>T	ENSP00000265594.4:n.1377+136C>T
ENST00000476176.5:c.1236+136C>T	ENSP00000420433.1:n.1236+136C>T
ENST00000492597.5:c.1050+136C>T	ENSP00000419898.1:n.1050+136C>T
ENST00000495767.5:c.*958+136C>T	ENSP00000419658.1:n.*958+136C>T
ENST00000497830.5:c.*974+136C>T	ENSP00000420088.1:n.*974+136C>T
ENST00000497959.5:c.1263+136C>T	ENSP00000420648.1:n.1263+136C>T
ENST00000539926.5:c.927+136C>T	ENSP00000441253.2:n.927+136C>T
ENST00000610757.4:c.927+136C>T	ENSP00000480435.1:n.927+136C>T
ENST00000629669.2:c.1263+136C>T	ENSP00000486824.1:n.1263+136C>T
NM_001293273.1:c.1026+136C>T	NP_001280202.1:n.1026+136C>T
NM_020166.4:c.1377+136C>T	NP_064551.3:n.1377+136C>T
NR_120639.1:n.1291+136C>T
NR_120640.1:n.2044+136C>T
XM_006713702.1:c.1050+136C>T	XP_006713765.1:n.1050+136C>T
XM_011512992.1:c.1263+136C>T	XP_011511294.1:n.1263+136C>T
XM_011512993.1:c.1377+136C>T	XP_011511295.1:n.1377+136C>T
XR_241502.2:n.1524+136C>T
XR_924159.1:n.1524+136C>T
NM_001363880.1:c.1050+136C>T	NP_001350809.1:n.1050+136C>T
XM_011512992.2:c.1263+136C>T	XP_011511294.1:n.1263+136C>T
XR_001740207.2:n.1500+136C>T
XR_001740208.2:n.1500+136C>T
XR_001740209.2:n.1470+136C>T
XR_001740210.1:n.1330+136C>T
XR_002959553.1:n.1500+136C>T
XR_002959554.1:n.1500+136C>T
XR_241502.3:n.1470+136C>T
NM_020166.5:c.1377+136C>T MANE Select	NP_064551.3:n.1377+136C>T
NM_001293273.2:c.1026+136C>T	NP_001280202.1:n.1026+136C>T
NR_120639.2:n.1200+136C>T
NR_120640.2:n.2044+136C>T