Canonical Allele Identifier: CA344792279

Gene: FLVCR1

Linked Data

• MyVariant Identifiers: chr1:g.213056766T>A (hg19) ; chr1:g.212883424T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883424T>A , CM000663.2:g.212883424T>A	GRCh38
NC_000001.10:g.213056766T>A , CM000663.1:g.213056766T>A	GRCh37
NC_000001.9:g.211123389T>A	NCBI36
NG_028131.1:g.30170T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1078T>A MANE Select	ENSP00000355938.4:p.Leu360Met
ENST00000366971.8:c.1078T>A	ENSP00000355938.4:p.Leu360Met
ENST00000419102.1:c.474T>A
ENST00000474693.1:n.303T>A
ENST00000483790.1:n.16T>A
NM_014053.3:c.1078T>A	NP_054772.1:p.Leu360Met
XM_011509446.1:c.1078T>A	XP_011507748.1:p.Leu360Met
XR_247024.1:n.1252T>A
XR_426771.1:n.1379T>A
XM_011509446.3:c.1078T>A	XP_011507748.1:p.Leu360Met
XR_247024.3:n.1252T>A
NM_014053.4:c.1078T>A MANE Select	NP_054772.1:p.Leu360Met