Canonical Allele Identifier: CA2718987

Gene: MCCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183071002G>A , CM000665.2:g.183071002G>A	GRCh38
NC_000003.11:g.182788790G>A , CM000665.1:g.182788790G>A	GRCh37
NC_000003.10:g.184271484G>A	NCBI36
NG_008100.1:g.33576C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020166.5:c.758C>T MANE Select	NP_064551.3:p.Pro253Leu
ENST00000265594.9:c.758C>T MANE Select	ENSP00000265594.4:p.Pro253Leu
NM_001293273.1:c.407C>T	NP_001280202.1:p.Pro136Leu
NM_001293273.2:c.407C>T	NP_001280202.1:p.Pro136Leu
NM_001363880.1:c.431C>T	NP_001350809.1:p.Pro144Leu
NM_020166.4:c.758C>T	NP_064551.3:p.Pro253Leu
NR_120639.1:n.672C>T
NR_120639.2:n.581C>T
NR_120640.1:n.1425C>T
NR_120640.2:n.1425C>T
ENST00000265594.8:c.758C>T	ENSP00000265594.4:p.Pro253Leu
ENST00000476176.5:c.617C>T	ENSP00000420433.1:p.Pro206Leu
ENST00000492597.5:c.431C>T	ENSP00000419898.1:p.Pro144Leu
ENST00000495767.5:c.*339C>T	ENSP00000419658.1:n.*339C>T
ENST00000497830.5:c.*355C>T	ENSP00000420088.1:n.*355C>T
ENST00000497959.5:c.644C>T	ENSP00000420648.1:p.Pro215Leu
ENST00000539926.5:c.308C>T	ENSP00000441253.2:p.Pro103Leu
ENST00000610757.4:c.308C>T	ENSP00000480435.1:p.Pro103Leu
ENST00000629669.2:c.644C>T	ENSP00000486824.1:p.Pro215Leu
XM_006713702.1:c.431C>T	XP_006713765.1:p.Pro144Leu
XM_011512992.1:c.644C>T	XP_011511294.1:p.Pro215Leu
XM_011512992.2:c.644C>T	XP_011511294.1:p.Pro215Leu
XM_011512993.1:c.758C>T	XP_011511295.1:p.Pro253Leu
XR_001740207.2:n.881C>T
XR_001740208.2:n.881C>T
XR_001740209.2:n.851C>T
XR_001740210.1:n.711C>T
XR_002959553.1:n.881C>T
XR_002959554.1:n.881C>T
XR_241502.2:n.905C>T
XR_241502.3:n.851C>T
XR_924159.1:n.905C>T