Canonical Allele Identifier: CA4426862

Gene: RINT1 EFCAB10

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.105565508T>C , CM000669.2:g.105565508T>C	GRCh38
NC_000007.13:g.105205955T>C , CM000669.1:g.105205955T>C	GRCh37
NC_000007.12:g.104993191T>C	NCBI36
NG_051951.1:g.38428T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001355526.2:c.384-61A>G (EFCAB10) MANE Select	NP_001342455.1:n.384-61A>G
NM_021930.6:c.2068-22T>C (RINT1) MANE Select	NP_068749.3:n.2068-22T>C
ENST00000257700.7:c.2068-22T>C (RINT1) MANE Select	ENSP00000257700.2:n.2068-22T>C
ENST00000480514.6:c.384-61A>G (EFCAB10) MANE Select	ENSP00000418678.1:n.384-61A>G
NM_001346599.1:c.1834-22T>C (RINT1)	NP_001333528.1:n.1834-22T>C
NM_001346599.2:c.1834-22T>C (RINT1)	NP_001333528.1:n.1834-22T>C
NM_001346600.1:c.1045-22T>C (RINT1)	NP_001333529.1:n.1045-22T>C
NM_001346600.2:c.1045-22T>C (RINT1)	NP_001333529.1:n.1045-22T>C
NM_001346601.1:c.1144-22T>C (RINT1)	NP_001333530.1:n.1144-22T>C
NM_001346601.2:c.1144-22T>C (RINT1)	NP_001333530.1:n.1144-22T>C
NM_001346603.1:c.1045-22T>C (RINT1)	NP_001333532.1:n.1045-22T>C
NM_001346603.2:c.1045-22T>C (RINT1)	NP_001333532.1:n.1045-22T>C
NM_001355526.1:c.384-61A>G (EFCAB10)	NP_001342455.1:n.384-61A>G
NM_001355530.1:c.*41A>G (EFCAB10)	NP_001342459.1:n.*41A>G
NM_001355530.2:c.*41A>G (EFCAB10)	NP_001342459.1:n.*41A>G
NM_001355531.1:c.360-61A>G (EFCAB10)	NP_001342460.1:n.360-61A>G
NM_001355531.2:c.360-61A>G (EFCAB10)	NP_001342460.1:n.360-61A>G
NM_021930.4:c.2068-22T>C (RINT1)	NP_068749.3:n.2068-22T>C
NM_021930.5:c.2068-22T>C (RINT1)	NP_068749.3:n.2068-22T>C
NR_027068.1:n.450-61A>G (EFCAB10)
NR_144478.1:n.2103-22T>C (RINT1)
NR_144478.2:n.1983-22T>C (RINT1)
ENST00000257700.6:c.2068-22T>C (RINT1)	ENSP00000257700.2:n.2068-22T>C
ENST00000469099.5:n.470-61A>G (EFCAB10)
ENST00000480514.5:c.384-61A>G (EFCAB10)	ENSP00000418678.1:n.384-61A>G
ENST00000485614.5:c.*41A>G (EFCAB10)	ENSP00000417841.1:n.*41A>G
ENST00000497979.5:c.*1673-22T>C (RINT1)	ENSP00000420582.1:n.*1673-22T>C
XM_005250524.2:c.1045-22T>C (RINT1)	XP_005250581.1:n.1045-22T>C
XM_005250524.4:c.1045-22T>C (RINT1)	XP_005250581.1:n.1045-22T>C
XM_011516458.1:c.1045-22T>C (RINT1)	XP_011514760.1:n.1045-22T>C
XM_011516458.3:c.1045-22T>C (RINT1)	XP_011514760.1:n.1045-22T>C
XM_024446617.1:c.*26-61A>G (EFCAB10)	XP_024302385.1:n.*26-61A>G
XM_024446855.1:c.2118T>C (RINT1)	XP_024302623.1:p.Tyr706=
XM_024446856.1:c.1095T>C (RINT1)	XP_024302624.1:p.Tyr365=
XR_927507.1:n.2015-22T>C (RINT1)