Canonical Allele Identifier: CA360626074

Gene: MCC

Linked Data

• MyVariant Identifiers: chr5:g.112399711C>A (hg19) ; chr5:g.113064014C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064014C>A , CM000667.2:g.113064014C>A	GRCh38
NC_000005.9:g.112399711C>A , CM000667.1:g.112399711C>A	GRCh37
NC_000005.8:g.112427610C>A	NCBI36
NG_012265.1:g.429817G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.1613G>T	ENSP00000305617.4:p.Trp538Leu
ENST00000408903.7:c.2183G>T MANE Select	ENSP00000386227.3:p.Trp728Leu
ENST00000302475.8:c.1613G>T	ENSP00000305617.4:p.Trp538Leu
ENST00000408903.6:c.2183G>T	ENSP00000386227.3:p.Trp728Leu
ENST00000514701.5:c.1613G>T	ENSP00000485220.1:p.Trp538Leu
ENST00000515367.6:c.1424G>T	ENSP00000421615.2:p.Trp475Leu
ENST00000624689.3:c.27G>T
NM_001085377.1:c.2183G>T	NP_001078846.1:p.Trp728Leu
NM_002387.2:c.1613G>T	NP_002378.1:p.Trp538Leu
XM_005271991.2:c.1613G>T	XP_005272048.1:p.Trp538Leu
XM_005271991.3:c.1613G>T	XP_005272048.1:p.Trp538Leu
XM_017009473.1:c.2183G>T	XP_016864962.1:p.Trp728Leu
XM_017009474.1:c.1583G>T	XP_016864963.1:p.Trp528Leu
XM_024446049.1:c.1424G>T	XP_024301817.1:p.Trp475Leu
XM_024446050.1:c.1424G>T	XP_024301818.1:p.Trp475Leu
XM_024446051.1:c.1424G>T	XP_024301819.1:p.Trp475Leu
XM_024446052.1:c.1424G>T	XP_024301820.1:p.Trp475Leu
NM_001085377.2:c.2183G>T MANE Select	NP_001078846.2:p.Trp728Leu
NM_002387.3:c.1613G>T	NP_002378.2:p.Trp538Leu