Canonical Allele Identifier: CA355321985

Gene: MCCC1

Linked Data - Variant Effect Evidence

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265594.9:c.1312G>C MANE Select	ENSP00000265594.4:p.Val438Leu
ENST00000265594.8:c.1312G>C	ENSP00000265594.4:p.Val438Leu
ENST00000476176.5:c.1171G>C	ENSP00000420433.1:p.Val391Leu
ENST00000492597.5:c.985G>C	ENSP00000419898.1:p.Val329Leu
ENST00000495767.5:c.*893G>C	ENSP00000419658.1:n.*893G>C
ENST00000497830.5:c.*909G>C	ENSP00000420088.1:n.*909G>C
ENST00000497959.5:c.1198G>C	ENSP00000420648.1:p.Val400Leu
ENST00000539926.5:c.862G>C	ENSP00000441253.2:p.Val288Leu
ENST00000610757.4:c.862G>C	ENSP00000480435.1:p.Val288Leu
ENST00000629669.2:c.1198G>C	ENSP00000486824.1:p.Val400Leu
NM_001293273.1:c.961G>C	NP_001280202.1:p.Val321Leu
NM_020166.4:c.1312G>C	NP_064551.3:p.Val438Leu
NR_120639.1:n.1226G>C
NR_120640.1:n.1979G>C
XM_006713702.1:c.985G>C	XP_006713765.1:p.Val329Leu
XM_011512992.1:c.1198G>C	XP_011511294.1:p.Val400Leu
XM_011512993.1:c.1312G>C	XP_011511295.1:p.Val438Leu
XR_241502.2:n.1459G>C
XR_924159.1:n.1459G>C
NM_001363880.1:c.985G>C	NP_001350809.1:p.Val329Leu
XM_011512992.2:c.1198G>C	XP_011511294.1:p.Val400Leu
XR_001740207.2:n.1435G>C
XR_001740208.2:n.1435G>C
XR_001740209.2:n.1405G>C
XR_001740210.1:n.1265G>C
XR_002959553.1:n.1435G>C
XR_002959554.1:n.1435G>C
XR_241502.3:n.1405G>C
NM_020166.5:c.1312G>C MANE Select	NP_064551.3:p.Val438Leu
NM_001293273.2:c.961G>C	NP_001280202.1:p.Val321Leu
NR_120639.2:n.1135G>C
NR_120640.2:n.1979G>C