Canonical Allele Identifier: CA6479241

Gene: RECQL

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21499569A>G , CM000674.2:g.21499569A>G	GRCh38
NC_000012.11:g.21652503A>G , CM000674.1:g.21652503A>G	GRCh37
NC_000012.10:g.21543770A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_002907.4:c.2T>C MANE Select	NP_002898.2:p.Met1Thr
ENST00000444129.7:c.2T>C MANE Select	ENSP00000416739.2:p.Met1Thr
NM_002907.3:c.2T>C	NP_002898.2:p.Met1Thr
NM_032941.2:c.2T>C	NP_116559.1:p.Met1Thr
NM_032941.3:c.2T>C	NP_116559.1:p.Met1Thr
ENST00000314748.10:c.2T>C	ENSP00000318727.6:p.Met1Thr
ENST00000396093.7:c.2T>C	ENSP00000379400.3:p.Met1Thr
ENST00000421138.6:c.2T>C	ENSP00000395449.2:p.Met1Thr
ENST00000444129.6:c.2T>C	ENSP00000416739.2:p.Met1Thr
ENST00000536240.5:c.2T>C	ENSP00000439069.1:p.Met1Thr
ENST00000536964.5:c.2T>C	ENSP00000446036.1:p.Met1Thr
ENST00000539672.1:c.2T>C	ENSP00000440700.1:p.Met1Thr
ENST00000542432.5:c.2T>C	ENSP00000445555.1:p.Met1Thr
XM_005253461.3:c.2T>C	XP_005253518.1:p.Met1Thr
XM_005253462.3:c.2T>C	XP_005253519.1:p.Met1Thr
XM_005253462.5:c.2T>C	XP_005253519.1:p.Met1Thr
XM_005253463.2:c.2T>C	XP_005253520.1:p.Met1Thr
XM_005253463.4:c.2T>C	XP_005253520.1:p.Met1Thr
XM_005253464.2:c.2T>C	XP_005253521.1:p.Met1Thr
XM_005253464.4:c.2T>C	XP_005253521.1:p.Met1Thr
XM_006719133.2:c.2T>C	XP_006719196.1:p.Met1Thr
XM_011520811.1:c.2T>C	XP_011519113.1:p.Met1Thr