Canonical Allele Identifier: CA3370034

Gene: MCC

Linked Data

• dbSNP Id: rs149204864
• ExAC: 5:112399822 C / A
• gnomAD v2: 5-112399822-C-A
• gnomAD v3: 5-113064125-C-A
• gnomAD v4: 5-113064125-C-A
• MyVariant Identifiers: chr5:g.112399822C>A (hg19) ; chr5:g.113064125C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.113064125C>A , CM000667.2:g.113064125C>A	GRCh38
NC_000005.9:g.112399822C>A , CM000667.1:g.112399822C>A	GRCh37
NC_000005.8:g.112427721C>A	NCBI36
NG_012265.1:g.429706G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000302475.9:c.1502G>T	ENSP00000305617.4:p.Arg501Leu
ENST00000408903.7:c.2072G>T MANE Select	ENSP00000386227.3:p.Arg691Leu
ENST00000302475.8:c.1502G>T	ENSP00000305617.4:p.Arg501Leu
ENST00000408903.6:c.2072G>T	ENSP00000386227.3:p.Arg691Leu
ENST00000514701.5:c.1502G>T	ENSP00000485220.1:p.Arg501Leu
ENST00000515367.6:c.1313G>T	ENSP00000421615.2:p.Arg438Leu
NM_001085377.1:c.2072G>T	NP_001078846.1:p.Arg691Leu
NM_002387.2:c.1502G>T	NP_002378.1:p.Arg501Leu
XM_005271991.2:c.1502G>T	XP_005272048.1:p.Arg501Leu
XM_005271991.3:c.1502G>T	XP_005272048.1:p.Arg501Leu
XM_017009473.1:c.2072G>T	XP_016864962.1:p.Arg691Leu
XM_017009474.1:c.1472G>T	XP_016864963.1:p.Arg491Leu
XM_024446049.1:c.1313G>T	XP_024301817.1:p.Arg438Leu
XM_024446050.1:c.1313G>T	XP_024301818.1:p.Arg438Leu
XM_024446051.1:c.1313G>T	XP_024301819.1:p.Arg438Leu
XM_024446052.1:c.1313G>T	XP_024301820.1:p.Arg438Leu
NM_001085377.2:c.2072G>T MANE Select	NP_001078846.2:p.Arg691Leu
NM_002387.3:c.1502G>T	NP_002378.2:p.Arg501Leu