Canonical Allele Identifier: CA360630993

Gene: MCC

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113104244T>G , CM000667.2:g.113104244T>G	GRCh38
NC_000005.9:g.112439941T>G , CM000667.1:g.112439941T>G	GRCh37
NC_000005.8:g.112467840T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302475.9:c.569A>C	ENSP00000305617.4:p.Lys190Thr
ENST00000408903.7:c.1139A>C MANE Select	ENSP00000386227.3:p.Lys380Thr
ENST00000302475.8:c.569A>C	ENSP00000305617.4:p.Lys190Thr
ENST00000408903.6:c.1139A>C	ENSP00000386227.3:p.Lys380Thr
ENST00000502648.5:n.259A>C
ENST00000505604.1:n.382A>C
ENST00000506605.6:n.593A>C
ENST00000511847.2:n.576A>C
ENST00000514701.5:c.569A>C	ENSP00000485220.1:p.Lys190Thr
ENST00000515367.6:c.380A>C	ENSP00000421615.2:p.Lys127Thr
XM_005271991.2:c.569A>C	XP_005272048.1:p.Lys190Thr
XM_005271991.3:c.569A>C	XP_005272048.1:p.Lys190Thr
XM_017009473.1:c.1139A>C	XP_016864962.1:p.Lys380Thr
XM_017009474.1:c.539A>C	XP_016864963.1:p.Lys180Thr
XM_024446049.1:c.380A>C	XP_024301817.1:p.Lys127Thr
XM_024446050.1:c.380A>C	XP_024301818.1:p.Lys127Thr
XM_024446051.1:c.380A>C	XP_024301819.1:p.Lys127Thr
XM_024446052.1:c.380A>C	XP_024301820.1:p.Lys127Thr
NM_001085377.2:c.1139A>C MANE Select	NP_001078846.2:p.Lys380Thr
NM_002387.3:c.569A>C	NP_002378.2:p.Lys190Thr