Canonical Allele Identifier: CA369196737

Gene: GARIN1B

Linked Data

• MyVariant Identifiers: chr7:g.128363303T>C (hg19) ; chr7:g.128723249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128723249T>C , CM000669.2:g.128723249T>C	GRCh38
NC_000007.13:g.128363303T>C , CM000669.1:g.128363303T>C	GRCh37
NC_000007.12:g.128150539T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621392.5:c.740T>C MANE Select	ENSP00000477573.2:p.Leu247Pro
ENST00000315184.9:c.740T>C	ENSP00000326652.4:p.Leu247Pro
ENST00000466842.1:c.308T>C	ENSP00000417930.1:p.Leu103Pro
ENST00000469348.5:n.599T>C
ENST00000471558.5:c.740T>C	ENSP00000418672.1:p.Leu247Pro
ENST00000484425.6:c.311T>C	ENSP00000418591.2:p.Leu104Pro
ENST00000485070.5:c.443T>C	ENSP00000418192.1:p.Leu148Pro
ENST00000493738.5:n.696T>C
ENST00000621392.4:c.443T>C	ENSP00000477573.1:p.Leu148Pro
NM_001282788.1:c.740T>C	NP_001269717.1:p.Leu247Pro
NM_001282789.1:c.443T>C	NP_001269718.1:p.Leu148Pro
NM_032599.3:c.740T>C	NP_115988.1:p.Leu247Pro
NR_104242.1:n.840T>C
NR_104243.1:n.729T>C
XM_017012743.2:c.740T>C	XP_016868232.1:p.Leu247Pro
XR_002956499.1:n.791T>C
NM_001282788.2:c.740T>C	NP_001269717.1:p.Leu247Pro
NM_001282789.2:c.443T>C	NP_001269718.1:p.Leu148Pro
NM_032599.4:c.740T>C	NP_115988.1:p.Leu247Pro
NR_104242.2:n.791T>C
NR_104243.2:n.729T>C
NM_001282788.3:c.740T>C MANE Select	NP_001269717.1:p.Leu247Pro