Canonical Allele Identifier: CA359544774

Gene: LIFR

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.38506618G>C , CM000667.2:g.38506618G>C	GRCh38
NC_000005.9:g.38506720G>C , CM000667.1:g.38506720G>C	GRCh37
NC_000005.8:g.38542477G>C	NCBI36
NG_011817.1:g.93788C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127671.2:c.1006C>G MANE Select	NP_001121143.1:p.Pro336Ala
ENST00000453190.7:c.1006C>G MANE Select	ENSP00000398368.2:p.Pro336Ala
NM_001127671.1:c.1006C>G	NP_001121143.1:p.Pro336Ala
NM_001364297.1:c.1006C>G	NP_001351226.1:p.Pro336Ala
NM_001364297.2:c.1006C>G	NP_001351226.1:p.Pro336Ala
NM_001364298.1:c.1006C>G	NP_001351227.1:p.Pro336Ala
NM_001364298.2:c.1006C>G	NP_001351227.1:p.Pro336Ala
NM_002310.5:c.1006C>G	NP_002301.1:p.Pro336Ala
NM_002310.6:c.1006C>G	NP_002301.1:p.Pro336Ala
ENST00000263409.8:c.1006C>G	ENSP00000263409.4:p.Pro336Ala
ENST00000453190.6:c.1006C>G	ENSP00000398368.2:p.Pro336Ala
ENST00000503088.1:n.1169C>G
XM_011514040.1:c.1006C>G	XP_011512342.1:p.Pro336Ala
XM_011514041.1:c.1006C>G	XP_011512343.1:p.Pro336Ala
XM_011514042.1:c.1006C>G	XP_011512344.1:p.Pro336Ala
XM_011514042.3:c.1006C>G	XP_011512344.1:p.Pro336Ala
XM_017009462.1:c.1060C>G	XP_016864951.1:p.Pro354Ala
XM_017009463.1:c.1006C>G	XP_016864952.1:p.Pro336Ala