Canonical Allele Identifier: CA354136113

Gene: ILDR1

Linked Data

• MyVariant Identifiers: chr3:g.121740924T>G (hg19) ; chr3:g.122022077T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122022077T>G , CM000665.2:g.122022077T>G	GRCh38
NC_000003.11:g.121740924T>G , CM000665.1:g.121740924T>G	GRCh37
NC_000003.10:g.123223614T>G	NCBI36
NG_031870.1:g.5204A>C
NG_031870.2:g.43478A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344209.10:c.1A>C MANE Select	ENSP00000345667.5:p.Met1Leu
ENST00000642615.1:c.1A>C	ENSP00000495499.1:p.Met1Leu
ENST00000273691.7:c.1A>C	ENSP00000273691.3:p.Met1Leu
ENST00000344209.9:c.1A>C	ENSP00000345667.5:p.Met1Leu
ENST00000393631.5:c.1A>C	ENSP00000377251.1:p.Met1Leu
ENST00000460554.1:n.122A>C
NM_001199799.1:c.1A>C	NP_001186728.1:p.Met1Leu
NM_001199800.1:c.1A>C	NP_001186729.1:p.Met1Leu
NM_175924.3:c.1A>C	NP_787120.1:p.Met1Leu
XM_011512738.1:c.1A>C	XP_011511040.1:p.Met1Leu
XM_011512739.1:c.-347-14916A>C	XP_011511041.1:n.-347-14916A>C
XM_011512738.2:c.1A>C	XP_011511040.1:p.Met1Leu
XM_011512739.2:c.-347-14916A>C	XP_011511041.1:n.-347-14916A>C
NM_001199799.2:c.1A>C MANE Select	NP_001186728.1:p.Met1Leu
NM_001199800.2:c.1A>C	NP_001186729.1:p.Met1Leu
NM_175924.4:c.1A>C	NP_787120.1:p.Met1Leu