Canonical Allele Identifier: CA355321984

Gene: MCCC1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.183039091C>A , CM000665.2:g.183039091C>A	GRCh38
NC_000003.11:g.182756879C>A , CM000665.1:g.182756879C>A	GRCh37
NC_000003.10:g.184239573C>A	NCBI36
NG_008100.1:g.65487G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1312G>T MANE Select	ENSP00000265594.4:p.Val438Phe
ENST00000265594.8:c.1312G>T	ENSP00000265594.4:p.Val438Phe
ENST00000476176.5:c.1171G>T	ENSP00000420433.1:p.Val391Phe
ENST00000492597.5:c.985G>T	ENSP00000419898.1:p.Val329Phe
ENST00000495767.5:c.*893G>T	ENSP00000419658.1:n.*893G>T
ENST00000497830.5:c.*909G>T	ENSP00000420088.1:n.*909G>T
ENST00000497959.5:c.1198G>T	ENSP00000420648.1:p.Val400Phe
ENST00000539926.5:c.862G>T	ENSP00000441253.2:p.Val288Phe
ENST00000610757.4:c.862G>T	ENSP00000480435.1:p.Val288Phe
ENST00000629669.2:c.1198G>T	ENSP00000486824.1:p.Val400Phe
NM_001293273.1:c.961G>T	NP_001280202.1:p.Val321Phe
NM_020166.4:c.1312G>T	NP_064551.3:p.Val438Phe
NR_120639.1:n.1226G>T
NR_120640.1:n.1979G>T
XM_006713702.1:c.985G>T	XP_006713765.1:p.Val329Phe
XM_011512992.1:c.1198G>T	XP_011511294.1:p.Val400Phe
XM_011512993.1:c.1312G>T	XP_011511295.1:p.Val438Phe
XR_241502.2:n.1459G>T
XR_924159.1:n.1459G>T
NM_001363880.1:c.985G>T	NP_001350809.1:p.Val329Phe
XM_011512992.2:c.1198G>T	XP_011511294.1:p.Val400Phe
XR_001740207.2:n.1435G>T
XR_001740208.2:n.1435G>T
XR_001740209.2:n.1405G>T
XR_001740210.1:n.1265G>T
XR_002959553.1:n.1435G>T
XR_002959554.1:n.1435G>T
XR_241502.3:n.1405G>T
NM_020166.5:c.1312G>T MANE Select	NP_064551.3:p.Val438Phe
NM_001293273.2:c.961G>T	NP_001280202.1:p.Val321Phe
NR_120639.2:n.1135G>T
NR_120640.2:n.1979G>T