Canonical Allele Identifier: CA9757357

Gene: CRLS1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.6037119T>C , CM000682.2:g.6037119T>C	GRCh38
NC_000020.10:g.6017765T>C , CM000682.1:g.6017765T>C	GRCh37
NC_000020.9:g.5965765T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378863.9:c.867T>C MANE Select	ENSP00000368140.4:p.Tyr289=
ENST00000652720.1:c.2991T>C	ENSP00000498784.1:p.Tyr997=
ENST00000378863.8:c.867T>C	ENSP00000368140.4:p.Tyr289=
ENST00000378868.4:c.570T>C	ENSP00000368145.3:p.Tyr190=
ENST00000452938.5:c.*163T>C	ENSP00000416770.1:n.*163T>C
ENST00000478846.1:n.415T>C
NM_001127458.1:c.570T>C	NP_001120930.1:p.Tyr190=
NM_019095.4:c.867T>C	NP_061968.1:p.Tyr289=
XM_005260737.3:c.534T>C	XP_005260794.1:p.Tyr178=
XM_005260738.3:c.534T>C	XP_005260795.1:p.Tyr178=
XM_006723580.2:c.534T>C	XP_006723643.1:p.Tyr178=
XM_011529262.1:c.821+2564T>C	XP_011527564.1:n.821+2564T>C
XM_011529264.1:c.534T>C	XP_011527566.1:p.Tyr178=
XM_011529265.1:c.534T>C	XP_011527567.1:p.Tyr178=
NM_001323561.1:c.534T>C	NP_001310490.1:p.Tyr178=
NM_001323562.1:c.534T>C	NP_001310491.1:p.Tyr178=
NM_001323563.1:c.534T>C	NP_001310492.1:p.Tyr178=
NM_001323564.1:c.534T>C	NP_001310493.1:p.Tyr178=
NM_019095.5:c.867T>C	NP_061968.1:p.Tyr289=
NR_136617.1:n.955T>C
XM_005260738.4:c.534T>C	XP_005260795.1:p.Tyr178=
XR_001754297.2:n.1321T>C
XR_001754298.2:n.1232T>C
NM_001127458.2:c.570T>C	NP_001120930.1:p.Tyr190=
NM_001323561.2:c.534T>C	NP_001310490.1:p.Tyr178=
NM_001323563.2:c.534T>C	NP_001310492.1:p.Tyr178=
NM_019095.6:c.867T>C MANE Select	NP_061968.1:p.Tyr289=
NR_136617.2:n.905T>C
NM_001323562.2:c.534T>C	NP_001310491.1:p.Tyr178=
NM_001323564.2:c.534T>C	NP_001310493.1:p.Tyr178=